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Diseases » Genetic Disease » Glossary
 

Glossary for Genetic Disease

  • +r(1) and +r(16): A very rare chromosomal disorder where some of the body's cells has extra ring chromosomes of chromosome 1 and chromosome 16.
  • 10q Partial Trisomy: A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the duplicated genetic material.
  • 11q Partial Trisomy: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
  • 14q+ syndrome: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • 14qter deletion Syndrome: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • 17-20 desmolase deficiency: A form of congenital adrenal hyperplasia where a deficiency of 17-20-desmolase results males having ambiguous or female external genitalia due to impaired sex steroid production.
  • 17-Beta-hydroxysteroid dehydrogenase III deficiency: A rare disorder characterized caused by an enzyme (17-ketosteroid reductase) defect only in the testes which results in a lack of testosterone which is needed during the fetal stage to give males there physical characteristics.
  • 18-Hydroxylase deficiency: A rare genetic, metabolic defect where a deficiency of the enzyme 18-Hydroxylase which results in a reduced amount of aldosterone and salt wasting.
  • 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 1q proximal deletion: A rare chromosomal disorder where the proximal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
  • 1q terminal deletion: A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
  • 2-methylbutyryl-coenzyme A dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 2-methylglutaconic aciduria type 3:
  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 2p21 deletion syndrome: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 2q22-q24 deletion: A rare chromosomal disorder where part of the long arm (q22-q24) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 2 in that it originates as a defect in a different gene (MCC1 gene) but it causes the same enzyme deficiency.
  • 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 1 in that it originates as a defect in a different gene (MCC2 gene) but it causes the same enzyme deficiency.
  • 3 alpha methylglutaconicaciduria, type 3: A rare genetic condition where a gene mutation prevents the production of certain protein which leads to a build-up of an acid (3-methylglutaconic acid) which can have a negative impact on the body. The condition is characterized mainly by damage to the optic nerve.
  • 3-Beta-HSD, Deficiency of: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Beta-Hydroxysteroid Dehydrogenase deficiency: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • 3-M Syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
  • 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
  • 3-methylcrotonyl-CoA carboxylase deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic.
  • 3-methylglutaconic aciduria, type 1: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
  • 3-methylglutaconic aciduria, type 4: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • 3-methylglutaconic aciduria, type V: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid.
  • 3?-hydroxysteroid dehydrogenase deficiency: A ver rare form of congenital adrenal hyperplasia involving a deficiency of 3?-hydroxysteroid dehydrogenase which results in reduced production of adrenal steroids (mineralocorticoids, sex steroids and glucocorticoids). The disorder can occur in classical, non-salt wasting and late-onset varieties.
  • 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: A very rare metabolic disorder where a deficiency of a particular enzyme results in the urinary excretion of a chemical called hawkinsin. Symptoms start once the infant is weaned off breast milk.
  • 4-hydroxyphenylacetic aciduria: A urinary abnormality usually caused by the deficiency of a particular enzyme (4-hydroxyphenylpyruvic acid oxidase). The urine contains excess 4-hydroxyphenylacetic acid.
  • 46,XX Gonadal dysgenesis epibulbar dermoid: A rare disorder characterized by gonad abnormalities and an eye disorder called epibulbar dermoid.
  • 46,XX chromosome 7 deletion p13: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • 46,XX chromosome 7 deletion p13-p21: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • 46,XX testicular DSD: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
  • 46,XX testicular disorder of sex development: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
  • 46,XY Gonadal Dysgenesis, Complete, SRY-Related: A rare disorder where a female has all the normal external femal characteristics but has non-functioning gonads. This means that no sex hormones needed for puberty are produced. This particular type is the result of a defect in the SRY gene located on chromosome Yp11.3.
  • 46,XY chromosome 7 deletion p13-p21: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • 46,XY chromosome 7 deletion p14-p14: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • 47 XYY syndrome: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 49,XXXXX syndrome: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
  • 49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
  • 5-alpha-Oxoprolinase deficiency: An inborn error of metabolism where there is insufficient 5-oxoprolinase which generally produces few if any symptoms.
  • 6-pyruvoyl-tetrahydropterin synthase deficiency: A rare genetic disorder where insufficient levels of tetrahydropterin leads to a build up of phenylalanine in the blood which can cause toxic side effects such as nerve damage or even brain damage. The condition does not usually cause any significant symptoms.
  • 7p2 Monosomy Syndrome: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • 8p-Syndrome, partial: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • ABCD syndrome: A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities.
  • ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • ACAD9 deficiency: A metabolic disorder involving a deficiency of an enzyme (acyl-CoA dehydrogenase-9). The symptoms are variable and are usually triggered by a viral infection or ingestion of aspirin which can trigger a Reye-like episode which can cause death.
  • ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • ACTH resistance: A rare inherited genetic disorder characterized by adrenal insufficiency due to the adrenal gland's inability to respond to ACTH and hence produce the hormone called cortisol.
  • ADA Deficiency: Adenosine deaminase deficiency is a condition which is inherited that results severe combined immunodeficiency disease.
  • APECED Syndrome: APECED is a recessively inherited genetic disease characterized by the presence of two of the following three conditions: impaired parathyroid function, yeast infection (candidiasis) and impaired adrenal gland function (Addison's disease). It is an autoimmune disease resulting from a genetic defect. The body's immune system malfunctions and attacks it's own body tissues.
  • ARCA: A group of recessively inherited neurological disorders characterized mainly by cerebellar ataxia and usually with other additional abnormalities.
  • Aagenaes syndrome: A rare inherited birth abnormality involving underdeveloped lymph vessels which results in swollen legs and liver problems.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.
  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Aase syndrome 2: A rare genetic disorder characterized by blood abnormalities and thumb structure defects.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
  • Abdominal chemodectomas with cutaneous angiolipomas: A rare genetic condition involving the growth of a tumor-like mass of lymphatic tissue in the abdomen.
  • Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
  • Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Absence of gluteal muscle: The absence of the buttock (gluteal) muscles at birth. Spina bifida occulta (absence of back part of some vertebrae) was also present.
  • Acatalasemia: A rare inherited disorder involving a lack of erythrocyte catalase activity which affects lipid metabolism. The defect can manifest as one of two variants: Japanese variant (Takahara disease) or the Swiss variant which is asymptomatic.
  • Aceruloplasminemia: A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas and liver. The iron overload results a neurodegeneration (ataxia, dementia and extrapyramidal disorders) and diabetes. Patients with only a partial absence of ceruloplasmin are often asymptomatic.
  • Acetyl-coa acetyltransferase 2 deficiency: A rare disorder where a genetic anomaly results in a deficiency of a particular enzyme (Acetyl-coa acetyltransferase 2) which is associated with mental retardation and reduced muscle tone. The enzyme is involved in lipid metabolism
  • Achalasia, familial esophageal: A rare familial disorder where the esophagus lacks the normal peristaltic motions that help food move through the digestive system.
  • Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
  • Achondrogenesis: A group of disorders characterized by abnormal bone and cartilage development.
  • Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
  • Achondrogenesis type 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
  • Achondrogenesis, type 4: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis.
  • Achromatopsia incomplete, X-linked: An inherited form of blue color blindness.
  • Acid phosphatase deficiency: A group of inherited metabolic bone disorders varying in degree of severity and characterized a deficiency of alkaline phosphate which affects bone mineralization.
  • Acidemia, isovaleric: A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm the brain and nervous system. Some people suffer severe symptoms from birth and others suffer milder symptoms that come and go and are affected by such things as infections or consumption of high protein food.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Aconitase deficiency: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
  • Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
  • Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
  • Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
  • Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acrocephalosyndactyly: A group of inherited disorders characterized by abnormalities involving the skull, face, hands and feet. Apert, Pfeiffer and Crouzon syndrome are examples of various types of the disorder.
  • Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrodermatitis Enteropathica: A rare inherited malabsorption disorder where the body is unable to absorb zinc in adequate quantities.
  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
  • Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrokeratosis verruciformis of Hopf: A rare inherited skin disorder characterized by skin-colored wart-like lumps on the backs of the hands and feet as well as the forearms and legs.
  • Acromegaloid facial appearance syndrome: A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency.
  • Acromegaloid hypertrichosis syndrome: A rare genetic condition characterized by excess body hair and a coarse face. The severity of the condition is variable.
  • Acromelic frontonasal dysplasia: A very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain.
  • Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
  • Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acromicric dysplasia: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones and facial anomalies.
  • Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
  • Acroosteolysis neurogenic: A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also be involved in some cases.
  • Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
  • Acrorenal syndrome: A rare lethal syndrome characterized limb anomalies and kidney malformations.
  • Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
  • Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Acyl-CoA dehydrogenase, very long chain, deficiency of: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage. There are three subtypes of the disorder each with varying severity: severe early-onset form, an intermediate form and an adult-onset form.
  • Adactylia unilateral dominant: A rare genetic condition characterized by missing portions of fingers usually with some sort of malformed remnant of a nail on the end of what is remaining of the finger.
  • Adams Nance syndrome: A rare genetic disorder characterized by rapid heartbeat, high blood pressure, small eyes and the presence of excess glycine in the urine.
  • Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adenine phosphoribosyltransferase deficiency: A rare genetic disorder where an enzyme (2, 8-dihydroxyadenine) deficiency results in urinary tract stone formation.
  • Adenomatous Polyposis of the Colon, autosomal dominant: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The condition is inherited in an autosomal dominant manner and occurs in a familial pattern. Most patients have at least one parent with the condition.
  • Adenosine deaminase deficiency: A rare disorder where a deficiency in the activity of adenosine deaminase causes severe immunodeficiency which in turn results in frequent severe bacterial, viral and fungal infections.
  • Adenosine deaminase, elevated, hemolytic anemia due to: A rare inherited disorder where there is a high level of an enzyme called adenosine deaminase in red blood cells. The high level of this enzyme results in premature destruction of red blood cells which ultimately leads to anemia. The severity of the anemia is determined by the level of excessive enzyme activity.
  • Adenosine monophosphate deaminase deficiency: A rare metabolic disorder characterized by a deficiency of adenosine monophosphate deaminase which affects muscle energy production. The condition is usually asymptomatic but some people suffer from muscle pain, cramps and fatigue following exercise.
  • Adenylate Kinase Deficiency: A rare genetic anomaly sometimes associated with hemolytic anemia.
  • Adenylosuccinate lyase deficiency: A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior.
  • Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
  • Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • Adrenoleukodystrophy: A rare disorder which has characteristic symptoms of Addison disease (adrenocortical insufficiency) and Schilder disease (cerebral sclerosis). Bronze skin, brain sclerosis and demyelination are the main symptoms.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Adult SMA: Form of Spinal Muscular Atrophy in adults.
  • Adult progressive spinal muscular atrophy, Aran Duchenne type: A group of inherited motor neuron diseases involving progressive muscle weakness, wasting and paralysis due to degeneration of motor neurons in the spinal cord. Muscle weakness and wasting usually starts in the hands and may gradually spread to other muscle groups.
  • Adult-onset ALD: Form of ALD in adults.
  • Agammaglobulinemia, X-linked, type 2: An immune system disorder involving a lack of mature B lymphocytes. The disorder occurs as a result of a defect on chromosome Xp22. Only males are symptomatic.
  • Agammaglobulinemia, autosomal recessive: A rare recessively inherited immune system disorder involving a lack of mature B lymphocytes.
  • Agammaglobulinemias, Primary: A group of inherited conditions characterized by a defective immune system.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Aicardi-Goutieres syndrome: A rare inherited progressive disease that affects the brain and immune system.
  • Aicardi-Goutieres syndrome 1: A rare inherited progressive disease that affects the brain and immune system. Type 1 is caused by a defect on chromosome 3p21.3-p21.2.
  • Aicardi-Goutieres syndrome 2: A rare inherited progressive disease that affects the brain and immune system. Type 2 is caused by a defect on chromosome 13q14-q21.
  • Aicardi-Goutieres syndrome 3: A rare inherited progressive disease that affects the brain and immune system. Type 3 is caused by a defect on chromosome 11q13.2.
  • Aicardi-Goutieres syndrome 4: A rare inherited progressive disease that affects the brain and immune system. Type 4 is caused by a defect on chromosome 19p13.13.
  • Aicardi-Goutieres syndrome 5: A rare inherited progressive disease that affects the brain and immune system. Type 5 is caused by a defect on chromosome 3p21.3-p21.2.
  • Alagille Syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Albers-Schonberg disease -- Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Albinism: A rare inherited condition characterized by a lack of pigmentation in the hair, skin and/or eyes.
  • Albinism, ocular, autosomal recessive: A rare inherited condition characterized by reduced eye pigmentation with normal, or near normal hair and skin pigmentation.
  • Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
  • Aldolase A deficiency: A rare condition where a deficiency of the enzyme called aldolase A causes muscle problems and anemia.
  • Alexander Syndrome: Brain myelin disorder causing mental degeneration.
  • Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration.
  • Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
  • Allanson-Pantzar-McLeod syndrome: A rare genetic disorder where abnormal development of kidney tubules results in severe kidney problems that start during the fetal stage.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Alpha 1-Antitrypsin Deficiency: A rare disorder characterized by the development of lung disease in adults and liver disease in adults and children.
  • Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Alpha thalassemia -- Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
  • Alpha thalassemia -- silent carrier: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia silent carrier involves defects in one of the four genes required to make each ? protein chain. The patients will have no symptoms but if they have children with a partner who carries thalassemia genes then the condition may be passed on to the offspring.
  • Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
  • Alpha thalassemia trait: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia trait involves defects in two of the four genes required to make each ? protein chain. The main symptom is mild anemia which may go unnoticed in many people.
  • Alpha-Mannosidosis: A rare condition which is characterized by a lysosomal storage defect.
  • Alpha-N-acetylgalactosaminidase deficiency, Type II: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
  • Alpha-N-acetylgalactosaminidase deficiency, Type III: A very rare enzyme deficiency (N-acetyl-alpha-D-galactosaminidase) which can occur in three forms: type I (infantile-onset neuroaxonal dystrophy), type II or Kanzaki disease (adult-onset) and type III (mild or moderate form).
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
  • Alpha-mannosidosis, adult-onset form:
  • Alpha-sarcoglycanopathy: A rare genetic disorder involving progressive muscle weakness of the pelvic and shoulder muscles.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alport syndrome with macrothrombocytopenia: A rare inherited syndrome characterized by progressive kidney damage and hearing loss as well as macrothrombocytopenia.
  • Alport syndrome, dominant type: A rare syndrome characterized by kidney problems and hearing loss. The condition is inherited as a dominant trait.
  • Alport syndrome, recessive type: A rare syndrome characterized by kidney problems and hearing loss. The condition is inherited as a recessive trait.
  • Alstrom disease: A rage genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus.
  • Alstrom syndrome: A rare genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus.
  • Alzheimer disease, familial: A degenerative brain disease characterized primarily by progressive dementia. The familial form is very rare and is completely inherited and has an early onset (usually in the 4th decade). It occurs when there is excessive production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease, familial, 1: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 21q. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 11: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 9p22.1. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 4: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q31-q42. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, type 3: A degenerative brain disease characterized primarily by progressive dementia. Type 3 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Amaurosis Congenita of Leber, type 12: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 12 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q32.3.
  • Amaurosis Congenita of Leber, type 13: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is obvious usually by the age of 4 years. Type 13 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Amaurosis congenita of Leber: A rare genetic eye disorder characterized by blindness at birth or within years as well as other eye abnormalities.
  • Amaurosis congenita of Leber, type 1: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type I is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, RETGC1 gene.
  • Amaurosis congenita of Leber, type 10: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 10 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 12, CEP290 gene.
  • Amaurosis congenita of Leber, type 11: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 11 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 7q, IMPDH1 gene.
  • Amaurosis congenita of Leber, type 2: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 2 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1, RPE65 gene.
  • Amaurosis congenita of Leber, type 3: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 3 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Amaurosis congenita of Leber, type 4: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 4 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, AIPL1 gene.
  • Amaurosis congenita of Leber, type 5: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 5 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 6q11-q16.
  • Amaurosis congenita of Leber, type 6: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 6 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q11, RPGRIP1 gene.
  • Amaurosis congenita of Leber, type 7: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 7 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 19q13.3, CRX gene.
  • Amaurosis congenita of Leber, type 8: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 8 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q31-q32.1, CRB1 gene.
  • Amaurosis congenita of Leber, type 9: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 9 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1p36, LCA9 gene.
  • Ambras syndrome: A rare genetic disorder characterized by overgrowth of hair over the whole body, especially the face and shoulders.
  • Amelia, autosomal recessive: A rare disorder characterized by the complete absence of the arms and a partial absence of the legs. The disorder has been described in the 3 fetuses of one family.
  • Amelogenesis Imperfecta 2, hypoplastic local, autosomal dominant: Amelogenesis imperfecta is an inherited tooth development disorder characterized by tooth enamel defects. In this particular form of the disease, there is a lack of tooth enamel calcification. The tooth enamel is very soft and is lost soon after the teeth erupt. Both primary and secondary teeth are affected.
  • Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1: Amelogenesis imperfecta is an inherited tooth development disorder characterized by tooth enamel defects. The hypoplastic/hypomaturation X-linked 1 form is characterized by thin tooth enamel which is of normal strength. The surface of the enamel varies from smooth to pitted and the tooth color is variable.
  • Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2: A rare inherited disorder involving abnormal formation of the tooth enamel which causes it to be thin and soft. The abnormality is inherited in a X-linked manner (Xq22-q28).
  • Amelogenesis imperfecta, local hypoplastic form, recessive: A rare inherited disorder involving abnormal formation of the tooth enamel which gives it a pitted appearance. Primary and secondary teeth are affected.
  • Aminoacylase 1 deficiency: A rare genetic disorder caused by an enzyme (aminoacylase-1) deficiency. There is still uncertainty whether the deficiency actually causes any of the symptoms observed in patients.
  • Amyloid angiopathy: A blood vessel disorder caused by abnormal amyloid deposits in the blood vessel walls of the brain. The deposits can cause the blood vessel to become weak and rupture resulting in intracranial bleeding. Despite the potentially serious consequences the disorder is often asymptomatic until old age.
  • Amyloid cardiopathy, familial: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. The familial cardiac form is inherited and involves deposits of amyloid in the heart muscle which affects its function. The electrical conduction system of the heart is impaired.
  • Amyloidosis VII: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Ohio type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages as well as vision impairment.
  • Amyloidosis, Familial: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the familial form, the type of amyloid involved is usually a plasma protein called transthyretin. The main parts of the body affected are the nerves, heart and kidneys.
  • Amyloidosis, Inherited: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the inherited form, the type of amyloid involved is usually a plasma protein called transthyretin. The main parts of the body affected are the nerves, heart and kidneys.
  • Amyloidosis, cerebroarterial, hereditary, Iowa type: An inherited form of amyloidosis caused by a defect in the APP gene on chromosome 21q21. Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this form, the deposits affect the brain arteries.
  • Amyloidosis, cerebroarterial, hereditary, Italian type: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Italian type, the amyloid deposits affect the brain blood vessels and cause hemorrhages.
  • Amyloidosis, familial cutaneous: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. The familial cutaneous form is characterized by brown skin pigmentation as well as systemic symptoms such as failure to thrive, developmental delay, gastrointestinal problems and pneumonia.
  • Amyloidosis, familial visceral: A rare genetic disorder involving widespread amyloidosis (abnormal buildup of amyloid protein in tissues) which tends the affect the kidneys severely.
  • Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
  • Amyoplasia congenital disruptive sequence: A rare genetic disorder characterized by congenital contractures of two or more different joints.
  • Amyotrophic lateral sclerosis: A motor neuron disease involving progressive degeneration and eventual destruction of the function of nerves that control voluntary movement.
  • Amyotrophic lateral sclerosis 2, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 2 is caused by a defect on chromosome 2q33.
  • Amyotrophic lateral sclerosis 3: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 3 is caused by a defect on chromosome 18q21.
  • Amyotrophic lateral sclerosis 4, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 4 is caused by a defect on chromosome 9q34.
  • Amyotrophic lateral sclerosis 5: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 5 is caused by a defect on chromosome 15q15.1-q21.1.
  • Amyotrophic lateral sclerosis 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis 7: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 7 is caused by a defect on chromosome 20p13.
  • Amyotrophic lateral sclerosis 8: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 9 is caused by a defect on chromosome 20q13.3 and is a dominantly inherited, late-onset form.
  • Amyotrophic lateral sclerosis type 1:
  • Amyotrophic lateral sclerosis, 11: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 11 is differentiated by the origin of the genetic defect involved (6q21).
  • Amyotrophic lateral sclerosis, 9: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 9 is differentiated by the origin of the genetic defect involved (14q11).
  • Amyotrophic lateral sclerosis, familial:
  • Amyotrophic lateral sclerosis, familial type 1: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usually occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 2: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very slowly over decades. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 3: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 4: A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the next few decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 5: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 6: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 7: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than 5 years to several decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 8: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, type 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophy, neurogenic scapuloperoneal, New England type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The exact symptoms that occur may vary from patient to patient with males often being more affected than females. An interesting observation of this condition is that symptoms and rate of progression tends to be more severe with each passing generation.
  • Anaemia due to pyrimidine 5' nucleotidase deficiency: A rare inherited disorder where a deficiency of a particular enzyme (pryimidine 5' nucleotidase) causes hemolytic anemia. The anemia is usually mild.
  • Anaemia, sideroblastic, X-linked -- ataxia: A very rare inherited disorder characterized by mild anemia and early onset neurological motor symptoms. The neurological symptoms tend to be relatively stable or slowly progressive with only occasional dependence on crutches or wheelchairs.
  • Andersen disease: An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition.
  • Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
  • Andrade's syndrome: An inherited condition characterized by deposits of an abnormal protein called amyloid in various parts of the body including organs. The condition mainly involves neurological symptoms.
  • Androgen Insensitivity Syndrome: Females with male XY genetics but inability to respond to testosterone.
  • Androgen insensitivity syndrome, partial: A rare inherited condition where males are partially insensitive to the male hormones which results in varying degrees of feminization. The effect of the condition can range from the presence of normal female sexual characteristics to normal male sexual characteristics or a combination of both.
  • Androgenetic alopecia: A form of hair loss that can affect men or women. In males, the hair loss starts over the temples and the hairline recedes gradually and sometimes complete baldness results. Women suffer thinning of hair all over the head and there is no receding hairline.
  • Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
  • Anencephaly and spina bifida X-linked: A severe X-linked malformation syndrome involving anencephaly where a part or all of the brain and associated skull is missing as well as a defect or opening in the spinal column.
  • Aneuploidy: An abnormal number of chromosomes.
  • Angel shaped phalangoepiphyseal dysplasia: A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Angioma hereditary neurocutaneous: A rare genetic condition characterized angiomas involving both the skin and nervous system.
  • Angiopathy, hereditary, with nephropathy, aneurysms and muscle cramps: An inherited disorder characterized by kidney disease, aneurysms, blood vessel disease and muscle cramps which can last from seconds to minutes.
  • Aniridia -- ptosis -- mental retardation -- obesity, familial: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
  • Aniridia ataxia renal agenesis psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormally kidneys.
  • Aniridia ptosis mental retardation obesity familial type: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
  • Ankyloblepharon filiforme -- imperforate anus: A rare genetic disorder characterized by a narrowed or absent anal opening as well as fused eyelids.
  • Anonychia: An inherited condition where an infant is born without fingernails and toe nails. The finger bones were normal.
  • Anophthalmia cleft lip palate hypothalamic disorder: A very rare inherited disorder characterized by one missing eye and one very small eye, cleft lip, cleft palate and high levels of thyroid-stimulating hormone.
  • Anorexia nervosa, genetic types: There is mounting evidence that anorexia nervosa may be caused by genetic factors which when combined with psychosocial factors can increase a persons risk of developing the condition.
  • Ansell-Bywaters-Elderking syndrome: A rare familial syndrome characterized mainly by mental retardation, rash, eye inflammation and joint disease.
  • Antigen-peptide-transporter 2 deficiency: A rare inherited disorder where an immunological defect increases a persons risk of vasculitis and bronchopneumopathy.
  • Antigen-peptide-transporter deficiency: A rare inherited disorder where an immunological defect increases a persons risk of vasculitis and bronchopneumopathy.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis: A rare genetic disorder involving a deficiency of an enzyme (cytochrome P450 oxidoreductase) which causes steroid abnormalities. The condition results in ambiguous genitalia in females due to excessive androgen during fetal growth. Patients can also have the bone symptoms of Antley-Bixler syndrome.
  • Anton-Vogt syndrome: A congenital disorder where a brain anomaly results in involuntary purposeless movements (choreathetosis). Excitement and activity can make symptoms worse.
  • Aortic aneurysm, familial abdominal 1: A rare familial disorder where the abdominal aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 1 is caused by a genetic defect on chromosome 19q13.
  • Aortic aneurysm, familial abdominal 2: A rare familial disorder where the abdominal aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 2 is caused by a genetic defect on chromosome 4q31.
  • Aortic aneurysm, familial abdominal 3: A rare familial disorder where the abdominal aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 3 is caused by a genetic defect on chromosome 9p21.
  • Aortic aneurysm, familial thoracic 1: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 1 is caused by a genetic defect on chromosome 11q23.3-q24.
  • Aortic aneurysm, familial thoracic 2: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 2 is caused by a genetic defect on chromosome 5q13-q14.
  • Aortic aneurysm, familial thoracic 3: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 3 is caused by a genetic defect on chromosome 3p22.
  • Aortic aneurysm, familial thoracic 4: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 4 also involves another heart defect (patent ductus arteriosus) and is caused by a genetic defect on chromosome 16p13.13-p13.12.
  • Aortic aneurysm, familial thoracic 5: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 5 is caused by a genetic defect on chromosome 9q33-q34.
  • Aortic arch interruption: A rare genetic birth defect where a portion of the aortic arch is missing or discontinued which severely impairs the flow of oxygenated blood to the lower body.
  • Apelt-Gerkin-Lenz Syndrome: A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs.
  • Aplasia Cutis Congenita: The genetic absence of an area of skin at birth. Mostly occurs on the scalp but can occur on other parts of the body. The missing patch may be covered by a thin membrane or may be raw.
  • Aplasia cutis congenita dominant: A rare, dominantly inherited disorder characterized by the congenital absence of skin layers on parts of the skull.
  • Aplasia cutis congenita of limbs recessive: A very rare syndrome characterized by a localized absence of skin on the limbs. The extent of the malformation is variable and but it often heals with scarring.
  • Aplasia of lacrimal and salivary glands: A rare inherited disorder involving the absence of the salivary and tear-producing glands.
  • Apo A-I deficiency: Low plasma HDL cholesterol that tends to run in families.
  • Apolipoprotein C 2I deficiency: A rare inherited condition where a deficiency of apolipoprotein C-II impairs lipoprotein metabolism and results in a build up of chylomicrons and VLDL.
  • Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
  • Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
  • Apraxia, oculomotor, Cogan type: A rare inherited condition where the person is unable to move eyes horizontally making it difficult to follow objects.
  • Arakawa syndrome 1: An inherited metabolic disorder where an enzyme deficiency (glutamate formiminotrransferase) causes mental and physical retardation and degeneration of brain tissue.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system.
  • Arginine-glycine amidinotransferase deficiency: A rare enzyme deficiency which manifests as mental retardation, developmental delay and speech problemss
  • Argininosuccinase lyase deficiency, late onset: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The late onset form of the condition tends to start later in life as there is some level of activity by the defective enzyme. The condition tends to be less severe and can be triggered by a change in diet, illness or some other stress on the body.
  • Argininosuccinase lyase deficiency, neonatal: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The neonatal form of the condition can result in death or severe complications if not treated early enough.
  • Arginninosuccinic acid synthetase deficiency:
  • Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • Arrhythmogenic right ventricular dysplasia, familial, 1: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 1 is linked to chromosome 14q23-q24 (TGFB3 gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 10: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 10 is linked to chromosome 18q12.1-q12 (DSG2 gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 11: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 11 is linked to chromosome 18q12.1 (DSC2 gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 12: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 12 is linked to chromosome 17q21 (JUP gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 2: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 2 is linked to chromosome 1q42.1-q43 (RYR2 gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 3: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 3 is linked to chromosome 14q12-q22.
  • Arrhythmogenic right ventricular dysplasia, familial, 4: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 4 is linked to chromosome 2q32.1-q32.3.
  • Arrhythmogenic right ventricular dysplasia, familial, 5: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 5 is linked to chromosome 3p23.
  • Arrhythmogenic right ventricular dysplasia, familial, 6: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 6 is linked to chromosome 10p14-p12.
  • Arrhythmogenic right ventricular dysplasia, familial, 7: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 7 is linked to chromosome 10q22-3.
  • Arrhythmogenic right ventricular dysplasia, familial, 8: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 8 is linked to chromosome 6p24 (DSP gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 9: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 9 is linked to chromosome 12p11 (PKP2 gene).
  • Arterial dissection -- lentiginosis: A rare inherited condition characterized by arterial dissection and numerous skin macules. An arterial dissection is a blood vessel anomaly where blood leaks into the blood vessel wall through a tear in the inner lining of the blood vessel.
  • Arterial dissections with lentiginosis: A rare familial syndrome characterized by the association of aortic dissection and multiple lentigines (brown skin spots). The aorta can rupture in some cases and result in sudden death.
  • Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Asperger Syndrome, X-linked, Susceptibility to, 1: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. X-linked type 1 is linked to a defect on chromosome Xq13.
  • Asperger Syndrome, X-linked, Susceptibility to, 2: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. X-linked type 1 is linked to a defect on chromosome Xp22.3.
  • Ataxia, Hereditary, Autosomal Dominant: A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved.
  • Ataxia, spastic, 3, autosomal recessive: A recessively inherited disorder characterized mainly by spasticity and ataxia.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
  • Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
  • Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
  • Atransferrinemia: A rare inherited condition characterized by the absence of a compound called transferring which results in a buildup of iron in the body's tissues as well as anemia.
  • Atrial Fibrillation, Familial 2: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 2 is linked to a genetic defect on chromosome 6q14-q16 and is inherited in an autosomal dominant manner. Symptoms tend to occur in episodes initially and then becomes chronic with increased age.
  • Atrial Fibrillation, Familial 3: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 3 is linked to a genetic defect on chromosome 11p15.5 and is inherited in an autosomal dominant manner.
  • Atrial Fibrillation, Familial 4: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 4 is linked to a genetic defect on chromosome 21q22.
  • Atrial Fibrillation, Familial 5: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 5 is linked to a genetic defect on chromosome 4q2.
  • Atrial Fibrillation, Familial 6: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 6 is linked to a genetic defect on chromosome 1p36.2 and is inherited in an autosomal dominant manner.
  • Atrial Fibrillation, Familial 7: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 7 is linked to a genetic defect on chromosome 12p13 and is inherited in an autosomal dominant manner.
  • Atrial Fibrillation, Familial 8: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 8 is linked to a genetic defect on chromosome 16q22 and is inherited in an autosomal dominant manner. Symptoms tend to occur in episodes initially and then becomes chronic with increased age.
  • Atrial fibrillation, familial 1: A dominantly inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases.
  • Atrial myxoma, familial: An atrial myxoma benign tumor that develops in the wall that separates the two upper chambers of the heart. The familial form of the condition also involves tumors in other parts of the body such as the skin, both heart atria or the heart ventricles.
  • Attenuated familial polyposis: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The attenuated form of the condition is distinguished by the development of polyps in old age rather than during the first decades of life.
  • Autism, X-linked, susceptibility to, 1: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 1 is linked to a genetic defect on chromosome Xq13.
  • Autism, X-linked, susceptibility to, 2: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 2 is linked to a genetic defect on chromosome Xp22.3.
  • Autism, X-linked, susceptibility to, 3: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 3 is linked to a genetic defect on chromosome Xp22.3.
  • Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells.
  • Autoimmune polyendocrinopathy syndrome, type 1: A very rare autoimmune disorder characterized by autoimmune polyendocrinopathy (APE), candidiasis (C) and ectodermal dysplasia (ED).
  • Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
  • Autosomal Dominant Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
  • Autosomal Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
  • Autosomal Recessive Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
  • Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
  • Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
  • Autosomal chromosome conditions: Any conditions that are related to any non-sex-determining chromosome
  • Autosomal dominant nocturnal frontal lobe epilepsy: A rare inherited form of epilepsy characterized by seizures during the night. The seizures tend to be brief (usually less than a minute) and violent and tend to occur in clusters. Patients are usually aware during the seizure.
  • Autosomal dominant polycystic kidney disease: Genetic kidney disease causing kidney cysts.
  • Autosomal recessive limb-girdle muscular dystrophy, type 2G:
  • Autosomal recessive nonsyndromic congenital nuclear cataract: A rare recessively inherited type of congenital cataract that is not associated with any other abnormality.
  • Autosomal recessive spastic paraplegia, type 11:
  • Avascular necrosis of femoral head, familial form: A familial hip joint disorder where bone growth abnormalities caused by an interrupted blood supply to the head of the femoral bone results in it's degeneration and deformity. When the body creates a new blood supply, new healthy bone can be formed.
  • Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
  • BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • BOR syndrome: A rare genetic disorder characterized by hearing loss, kidney malformations and branchial arch anomalies. There are two subtypes with different genetic defect origins.
  • Baker-Winegrad disease: A very rare syndrome caused by a deficiency of the enzyme fructose-1-6-diphosphatase which impairs the body's ability to break down fructose that is consumed in the diet.
  • Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
  • Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
  • Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
  • Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
  • Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
  • Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
  • Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
  • Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
  • Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
  • Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
  • Bare lymphocyte syndrome: An inherited immunodeficiency disorder characterized by T- and B-cell dysfunction (these cells are essential for helping fight infection). Lack of treatment can result in infant death from infection.
  • Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
  • Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.
  • Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
  • Bartter Syndrome type 4: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4 also involves sensorineural deafness.
  • Bartter Syndrome type 4A: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4A also involves sensorineural deafness.
  • Bartter Syndrome type 4B: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4B also involves sensorineural deafness.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
  • Bartter's syndrome, type 3: A rare condition characterized by an electrolyte imbalance caused by mutations of the chloride channel gene (ClCNKb). It differs from Bartter's syndrome type I and type II in the absence of nephrocalcinosis. The severity of the condition is greatly variable.
  • Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
  • Basal Ganglia Disease, Adult-Onset: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
  • Beare-Stevenson cutis gyrate syndrome:
  • Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
  • Becker disease: A rare inherited neuromuscular disorder characterized by muscle stiffness when movement is initiated and difficulty relaxing muscles after movement had occurred. Becker disease is a recessively inherited form of myotonia congenita and usually occurs later in childhood than the dominantly inherited form and muscle stiffness is usually more severe.
  • Becker's muscular dystrophy (BMD): A slowly progressing muscle wasting disease that affects mainly the hip and shoulder muscles.
  • Beckwith-Wiedemann Syndrome: A rare genetic disorder characterized by macroglossia, omphalocele, macrosomia and ear creases.
  • Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
  • Behr syndrome: A rare inherited neurological condition characterized by spastic paraplegia and sometimes optic atrophy.
  • Bencze syndrome: A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases.
  • Benign familial hematuria: A rare inherited kidney disorder characterized by periods of blood in the urine. The kidney is still able to function normally.
  • Benign familial infantile epilepsy: A harmless form of epilepsy that occurs during infancy. Psychomotor development is not affected.
  • Benign familial infantile seizures 1: A harmless form of epilepsy that occurs during infancy. Episodes of multiple seizures tend to occur over a day or few days. Psychomotor development is not affected. The seizures tend to involve increased muscle tone, apnea, cyanosis, eye deviation and psychomotor arrest. Type 1 differs from type 2 in the origin of the genetic defect (chromosome 19).
  • Benign familial infantile seizures 2: A harmless form of epilepsy that occurs during infancy. Episodes of multiple seizures tend to occur over a day or few days. Psychomotor development is not affected. The seizures tend to involve increased muscle tone, apnea, cyanosis, eye deviation and psychomotor arrest. Type 2 differs from type 1 in the origin of the genetic defect (chromosome 16).
  • Benign familial neonatal-infantile seizures: A rare dominantly inherited form of seizures that occurs during the first year of life. The seizures tend to occur in clusters. The seizures involved limb twitching, averted head, eye-blinking and lip smacking. No neurological or developmental problems are associated with this disorder.
  • Beradinelli-Seip congenital lipodystrophy:
  • Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
  • Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Bernard syndrome: A familial condition characterized by acute anemia, jaundice, hemoglobinuria and destruction of red blood cells. Acute symptoms may follow an episode of fever, abdominal pain, vomiting, malaise and joint pain.
  • Bernard-Soulier Syndrome: A rare inherited blood coagulation disorder caused by blood platelet abnormalities which results in easy bruising and excessive bleeding.
  • Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
  • Bestrophinopathy, atuosomal recessive: A disorder of the retinas which manifests as loss of central vision loss.
  • Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
  • Beta Thalassemia trait: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia trait involves defects in one of the two genes required to make each ? protein chain. Mild anemia is usually the only symptom.
  • Beta ketothiolase deficiency: A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks.
  • Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Beta-Glutamylcysteine synthetase deficiency: A rare disorder of amino acid metabolism where deficiency of the enzyme called Beta-Glutamylcysteine synthetase impairs the body's ability to metabolize sulfur-containing amino acids.
  • Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
  • Bethlem myopathy: A rare, slow-progressing, genetic muscle disorder where the muscle gradually weaken and become wasted.
  • Biber-Haab-Dimmer dystrophy: An inherited eye disorder where the cornea of the eye develops abnormal lattice-shaped lines caused by the abnormal deposition of a substance called amyloid. The abnormal deposits cause progressive vision impairment.
  • Bielschowsky disease: An eye disorder where one eye tends to drift upwards while the other remains fixed.
  • Biemond Syndrome: A rare genetic disorder characterized by nystagmus, cerebellar ataxia and short digits.
  • Biemond syndrome type 1: A rare inherited condition characterized by mental retardation, finger and toe abnormalities, obesity and eye problems.
  • Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
  • Biemond syndrome type 3: A rare inherited condition characterized by the inability to feel pain as well as other anomalies.
  • Bifid nose dominant: A rare inherited malformation where there is a cleft in the middle of the nose.
  • Bilateral renal agenesis dominant type: A rare birth defect where both kidneys are absent. The disorder results in death within days of birth.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • Birt-Hogg-Dube syndrome: A rare inherited disorder that affects the skin and results in an increased risk of certain skin tumors called fibrofolliculomas which are benign.
  • Bisalbuminemia, inherited: An inherited trait involving the presence of an additional type of serum albumin. The condition is asymptomatic.
  • Bjornstad syndrome: An inherited condition characterized by twisted hairs and nerve deafness.
  • Blaichman syndrome: A very rare genetic disorder characterized by a malformation where there is an opening between the trachea and esophagus. Webbing of the fifth finger is also present.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
  • Blood coagulation disorders, inherited: Inherited blood disorders where the ability to form clots is dysfunctional. The blood needs to be able to clot to prevent excessive bleeding in situations such as when the body suffers some sort of injury. With blood coagulation disorders, the blood's ability to clot may be impaired, resulting in excessive bleeding, or the blood may form clots too readily and result in thrombosis.
  • Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
  • Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency: A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor.
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Book syndrome: A rare condition observed in a number of generations within one family. It was characterized by excessive sweating
  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Bosley-Salih-Alorainy syndrome: A rare recessively inherited disorder involving inner and outer ear deformity, eye movement disorder, deafness, cardiovascular malformations and other anomalies. The range and severity of symptoms is variable.
  • Bowen-Conradi Syndrome: A very rare inherited disorder characterized by low birth weight, small head, facial anomalies and failure to thrive.
  • Brachydactyly -- mesomelia -- mental retardation -- heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
  • Brachymesophalangy 2 and 5: A rare genetic disorder characterized by short middle bones of the second and fifth fingers and toes.
  • Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism.
  • Brachyrachia: A rare inherited spine condition characterized by dwarfism due to a short spine.
  • Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
  • Brain -- bone -- fat: A rare inherited disease characterized by bone cysts and progressive presenile dementia.
  • Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of the upper lip.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
  • Braun-Bayer syndrome: A familial disorder involving deafness, split uvula, short thumbs and toes and kidney problems.
  • Broad beta disease: An inherited condition involving a defect in the transport of lipids which causes the development of lipid deposits (xanthomas) under the skin in certain parts of the body.
  • Brody myopathy: A form of neuromuscular disease caused by a genetic defect. The muscles have difficulty relaxing after exercise or strong movements such as making a fist or forcefully closing eyes.
  • Brugada Syndrome: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. The condition may be inherited in some cases. The mean age of sudden death is 40 years of age.
  • Brugada syndrome 1: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. Type 1 is caused by a mutation in the SCN5A gene on chromosome 3p21. Symptoms most often occur during the night and the condition is most prevalent in Japan and Southeast Asia.
  • Brugada syndrome 2: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. Type 2 is caused by a mutation in the GPD1L gene on chromosome 3p22.3. Symptoms most often occur during the night and the condition is most prevalent in Japan and Southeast Asia.
  • Brugada syndrome 3: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. Type 3 is caused by a mutation in the CACNA1C gene on chromosome 12p13.3. Symptoms most often occur during the night and the condition is most prevalent in Japan and Southeast Asia.
  • Brugada syndrome 4: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. Type 14 is caused by a mutation in the CACNB2 gene on chromosome 10p12. Symptoms most often occur during the night and the condition is most prevalent in Japan and Southeast Asia.
  • Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
  • Burn-McKeown syndrome: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
  • Buttiens-Fryns syndrome: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
  • Butyrylcholinesterase deficiency: A metabolic disorder involving an enzyme (butyrylcholinesterase) deficiency. It results in prolonged recovery from the effects of certain anesthetics such as succinylcholine and mivacurium which are muscle relaxants. The severity of the deficiency will determine the length of time taken to recover from anesthetic. In severe cases, patients can take more than 8 hours to recover.
  • Byler Disease: A rare inherited conditions where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The conditions has an early onset and usually leads to end-stage liver disease by the end of the second decade.
  • C Syndrome: A rare inherited disorder characterized by a triangular-shaped head, facial anomalies, joint contractures and loose skin.
  • C1esterase deficiency: C1esterase deficiency is a condition characterized by swelling under the skin or mucosal tissue - the skin, respiratory tract or gastrointestinal tract may be affected. The condition may be inherited or acquired. Symptoms tend to develop over a few days and then abate after two to five days. Swelling attacks may occur fairly regularly e.g. weekly or sporadically e.g. once or twice a year.
  • CCFDN: A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy.
  • CD3 deficiency: Deficiency of a T-cell antigen receptor complex which results in mild combined immunodeficiency.
  • CDG syndrome (generic term): Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. The main symptom in all the disorders is psychomotor retardation but other variable symptoms also occur depending on the subtype of the disorder.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CDG syndrome type 1B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.
  • CDG syndrome type 3: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 3 has variable symptoms.
  • CDG syndrome type 4: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 4 is caused by a genetic defect which involves the gene for a particular enzyme (dolichyl-P-mannose:Man-5-GlcNAc-2-PP-dolichyl-mannosyltransferase).
  • CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
  • CDG syndrome type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • CHILD syndrome ichthyosis: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
  • CML-Like Syndrome, Familial: A very rare condition characterized by symptom similar to myelocytic leukemia that develop during infancy. The condition can result in death during the first years of life.
  • CRAPB: A rare inherited eye disorder involving slow-progressing chorioretinal damage which leads to vision impairment.
  • Cadasil: A rare inherited condition which affects the small blood vessels of the brain. Damage to the vessels causes strokes and other problems.
  • Calcific aortic disease with immunologic abnormalities, familial: A rare familial condition characterized by the abnormal calcification of the aorta and aortic valve. The calcification can narrow the aortic valve opening and hence affect blood flow. The condition also includes immunological abnormalities
  • Callosities, hereditary painful: A rare skin inherited condition characterized by the development of painful calluses over pressure points in the hands and feet. Occasionally blisters filled with a foul-smelling liquid form around the calluses.
  • Camurat-Engelmann disease, type 2: A rare syndrome characterized by a range of abnormalities including waddling gait, muscle weakness, knee and hip contractures, delayed puberty and leg pain.
  • Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
  • Camurati-Engelmann Disease: A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
  • Candidiasis familial chronic mucocutaneous, autosomal dominant, with thyroid disease: A dominantly inherited condition characterized by poor immunity to fungal infections (particularly those caused by Candida albicans) as will as thyroid disease. Persistent fungal infections tend to affect the nails, skin or mucous membranes. The degree of severity is variable with some cases leading to fugal infection of the brain which is usually fatal.
  • Candidiasis familial chronic mucocutaneous, autosomal recessive: A recessively inherited condition characterized by poor immunity to fungal infections - particularly those caused by Candida albicans. Persistent fungal infections tend to affect the nails, skin or mucous membranes. The degree of severity is variable with some cases leading to fugal infection of the brain which is usually fatal.
  • Carbamoyl-phosphate synthase 1 deficiency: A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated.
  • Carbohydrate deficiency glycoprotein syndrome type II: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
  • Cardiac valvular dysplasia, X-linked: An inherited (X-linked) form of heart disease involving mitral or aortic valve regurgitation. Females are carriers and hence asymptomatic whereas males displayed symptoms.
  • Cardiomyopathy -- hearing loss, type tRNA-LYS gene mutation: A rare inherited condition characterized by the association of cardiomyopathy and deafness.
  • Cardiomyopathy dilated 2A: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 2A is caused by a defect in the TNNI3 gene on chromosome 19q13.4.
  • Cardiomyopathy dilated 3B: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 3B is caused by a defect in the dystrophin gene on chromosome Xp21.2. Males tend to be more severely affected than males with death occurring within about a year from the onset of symptoms. Symptoms in males tend to occur by the age of 21 and females tended to have an onset during their fifth decade of life with a relatively slower course of progression than in males.
  • Cardiomyopathy, X-linked, fatal infantile: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The condition occurs during infancy and results in death.
  • Cardiomyopathy, familial dilated: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally.
  • Carnevale-Krajewska-Fischetto syndrome: A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
  • Carnitine Deficiency Syndromes: Syndromes associated with the deficiency of carnitine.
  • Carnitine Palmitoyl Transferase II Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase 1 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase I) prevents fatty acids being transported to the part of the cell that converts it to energy.

 

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