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Symptoms » Kidney abnormalities » Glossary
 

Glossary for Kidney abnormalities

Medical terms related to Kidney abnormalities or mentioned in this section include:

  • 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.
  • 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.
  • Abdominal symptoms: Symptoms affecting the abdomen or digestive tract
  • Acitretin- Teratogenic Agent: Reports indicate that the use of Acitretin during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. Acitretin should not be taken by women who are pregnant or planning on becoming pregnant.
  • 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.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • 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.
  • BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
  • Bosviel syndrome: A rare condition where a blood blister on the uvula ruptures. It often occurs as a complication of tracheal intubation.
  • 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 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which 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 II deficiency, lethal neonatal form: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. The lethal neonatal form affects various organs as well as the muscles and death usually occurs during the first year of life.
  • Carnitine palmitoyl transferase deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which 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.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
  • Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 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.
  • Chromosome 20 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 6, trisomy 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 7, trisomy mosaic: A very rare chromosomal disorder where there is an extra copy of chromosome 7 in some of the body's cells. Most cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
  • Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
  • Craniosynostosis mental retardation clefting syndrome: A rare disorder characterized by premature fusion of the skull bones (craniosynostosis), mental retardation a cleft lip and/or palate.
  • Del (3) (p21.1-p13): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Developmental problems: Physical or mental development difficulty.
  • Digestive symptoms: Any symptoms affecting the digestive tract.
  • Dup (2) (q32-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Duplication 10q partial: 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.
  • Duplication 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
  • Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
  • Face symptoms: Symptoms affecting the face
  • Fanconi pancytopenia: A rare genetic disorder characterized by upper limb defects and kidney abnormalities.
  • Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
  • Fraser Syndrome: A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn.
  • Head symptoms: Symptoms affecting the head or brain
  • Herbal Agent overdose -- Rue: Rue can be used to induce abortion, as a topical insect repellant or to treat spasms and delayed menstruation. The herbal agent contains chemicals (alkaloids, arborine, arborinine) which can cause various symptoms if excessive quantities are taken.
  • Human Cytochrome Oxidase Deficiency: A condition characterized by a deficiency in cytochrome oxidase enzyme
  • Kidney conditions: Any condition affecting the kidney organs.
  • Kidney pain: The occurrence of pain that comes from the kidney
  • Kidney symptoms: Symptoms affecting one or both kidneys.
  • Meckel syndrome type 2: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes.
  • Meckel syndrome type 3: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 3 differs from the other types in the location of the genetic defect and by the fact that meningoencephaloceles and extra fingers tend to occur less frequently.
  • Mesodermal defects lower type: A very rare syndrome characterized mainly by defects of the lower trunk area such as the pelvic organs.
  • Micrencephaly corpus callosum agenesis: A very rare disorder characterized by abnormal brain development which results in a very small brain. Patients may die during infancy and survivors suffer mental retardation and other physical abnormalities.
  • Nerve symptoms: Symptoms affecting the nerves
  • Partial Trisomy 3pter: A genetic disorder where a portion of the genetic material from the end of the short arm of chromosome 3 is duplicated so there are three copies instead of the normal two. The symptoms or severity may vary somewhat between patients depending on the size and location of the genetic material involved.
  • Rieger syndrome 2: A rare disorder where abnormal development of the front portion of the eye causes glaucoma and impaired vision. Other abnormalities are also present.
  • Rubinstein-Taybi like syndrome: A condition characterized by numerous congenital abnormalities including small head, unusual facial features, short stature, broad thumb and big toe and mental retardation.
  • Say syndrome: A rare inherited syndrome characterized by a variety of abnormalities including transient low blood gammaglobulin levels.
  • Simpson-Golabi-Behmel syndrome, type 1 (SGBS1): A rare genetic disorder characterized by accelerated growth, a peculiar face and other defects.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
  • Tacrolimus -- Teratogenic Agent: There is evidence to indicate that exposure to Tacrolimus during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Trisomy 13 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 13 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect. There appears to be a direct correlation between the number of cells in the body containing the chromosomal defect and severity of symptoms and survival.
  • Trisomy 7 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 7 in some of the body's cells. Most cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Upper abdominal symptoms: Symptoms affecting the upper abdominal region.
  • Urinary symptoms: Symptoms affecting urination or related organs.
  • Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
  • Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.

Conditions listing medical symptoms: Kidney abnormalities:

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