Glossary for Liver fibrosis

• Abdominal conditions: Medical conditions affecting the abdominal region.
• Alpha 1-Antitrypsin Deficiency: A rare disorder characterized by the development of lung disease in adults and liver disease in adults and children.
• Argininosuccinic aciduria: A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ammonia in the blood.
• 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.
• Bile acid synthesis defect, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
• Bile acid synthesis defect, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile acid synthesis defects: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile acid synthesis defects, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
• Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Boichis syndrome: A rare syndrome involving nephronophthisis (progressive destruction of kidney tissue) from birth which leads to kidney failure and liver fibrosis.
• 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 I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
• COACH syndrome: A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities.
• Cerebellar vermis hypoplasia -- oligophrenia -- congenital ataxia -- coloboma -- hepatic fibrosis: A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities.
• Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
• Cholestasis, progressive familial intrahepatic 2: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various types of this condition differ in the origin of the genetic defect (liver-specific ATP-binding cassette transporter on chromosome 2q24). Type 2 is also associated with an increased risk of liver cancer in the first few years of life.
• Cholestasis, progressive familial intrahepatic 3: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various types of this condition differ in the origin of the genetic defect (liver-specific ATP-binding cassette transporter on chromosome 2q24). Type 2 is also associated with an increased risk of liver cancer in the first few years of life.
• Cholestyramine -- Teratogenic Agent: There is evidence to indicate that exposure to Cholestyramine (cholesterol-lowering drug) 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.
• Cirrhosis of the liver: Scarring of the liver from alcohol or other causes.
• Congenital Disorders of Glycosylation Type Ia: 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.
• Congenital disorder of glycosylation 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.
• Congenital disorder of glycosylation 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.
• Diabetes, neonatal -- congenital hypothyroidism -- congenital glaucoma -- hepatic fibrosis -- polycystic kidneys: A rare syndrome characterized by the presence of diabetes, hypothyroidism, liver fibrosis, polycystic kidneys and glaucoma in infants.
• Digestive Diseases: Diseases that affect the digestive system
• Glycogen Storage Disease IXa1: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. Thee are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXa is linked to a defect in the PHKA2 gene on chromosome Xp22.2-p22.1. It is inherited in a X-linked recessive manner which means that only males will exhibit symptoms though females may be carriers.
• Glycogen Storage Disease IXb: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. There are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXb is linked to a defect in the PHKG2 gene on chromosome 16q12-q13 and is inherited in a recessive manner. The metabolic anomaly results in the accumulation of glycogen in the liver and muscle.
• Glycogen Storage Disease IXc: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. There are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXc is linked to a defect in the PHKG2 gene on chromosome 16p12.1-p11.2 and is inherited in a recessive manner.
• Heart failure: Slow failure of the heart (cardiac insufficiency).
• Hemochromatosis: Excess of iron leading to problems with joints, liver, heart and pancreas.
• Hepatitis B: Viral liver infection spread by sex or body fluids.
• Hepatitis C: Viral liver infection spread by blood.
• Jequier-Kozlowski-skeletal dysplasia: A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.
• Joubert Syndrome 9: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 9 is linked to a defect on chromosome 4p15.3.
• Liver conditions: Any condition that affects the liver
• Liver failure: Acute liver failure (ALF) is an uncommon condition in which the rapid deterioration of liver function results in coagulopathy and alteration in the mental status of a previously healthy individual.
• Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
• Nephronophthisis -- hepatic fibrosis: A rare syndrome characterized by progressive destruction of kidney tissue (nephronophthisis) which occurs from birth and results in kidney failure and liver fibrosis.
• PFIC: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. End-stage liver disease usually occurs before adulthood. There are three different subtypes of the disorder, each with a different genetic origin of the defect.
• Polycystic kidney disease type 1: A rare condition where cysts in the kidney grow and cause the kidney to become larger and reduce it's ability to function. PKD 1 is an autosomal dominant form of the disease and differs from PKD 2 in that it is more severe and is caused by a mutation in a different gene.
• Portal hypertension: Portal hypertension may be defined as a portal pressure gradient of 12 mm Hg or greater and is often associated with varices and ascites.
• Primary biliary cirrhosis: Primary biliary cirrhosis is a chronic and progressive cholestatic disease of the liver.
• Primary sclerosing cholangitis: Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown etiology that is recognized increasingly in children.
• Renal-hepatic-pancreatic dysplasia -- Dandy Walker cyst: A very rare syndrome involving abnormal development of the kidneys, liver and pancreas as well as a brain cyst called a Dandy-Walker cyst.
• Thompson-Baraitser syndrome: A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation.
• Tricho-hepato-enteric syndrome: A very rare syndrome characterized mainly by hair and liver abnormalities as well as severe diarrhea that usually starts in early infancy and can lead to death.
• Type IV Glycogen Storage Disease: A condition which is characterized by a disease affecting glycogen storage
• Unusual facies, hepatic fibrosis, renal cysts and mental retardation: A rare syndrome characterized mainly by liver fibrosis, unusual facial appearance, kidney cysts and mental retardation.
• Wilson's Disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.
• Wolman disease: A rare inherited lipid storage disease. The condition usually results in death early in life.

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