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Diseases » Cholestasis » Glossary

Glossary for Cholestasis

Alveolar Hydatid Disease: Rare multi-organ tapeworm infection caught from animals.
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, 1: 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 (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid.
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, 3: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the liver.
Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
Bile duct paucity in Graft-Versus-Host Disease: A reduced number of ducts that carry bile through and from the liver (bile duct) that results from graft-versus-host disease.
Bile duct paucity in Liver Allograft Rejection: A reduced number of ducts that carry bile through and from the liver (bile duct) that results from liver allograft rejection.
Bile duct paucity, non syndromic form: A reduced number of ducts that carry bile through and from the liver (bile duct) that is not associated with a syndrome. Paucity of bile ducts is associated with many liver conditions such as biliary cirrhosis and sclerosing cholangitis.
Biliary Atresia: A rare condition that can affect newborns where the bile duct that carries the bile from the liver to the small intestine is blocked or missing.
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.
Cholangitis: bile duct inflammation (cholangitis)
Cholestasis - pigmentary retinopathy - cleft palate: A rare syndrome characterized by degeneration of retinal pigments, cleft lip, cleft palate, kidney problems and cholestasis (bile flow obstruction).
Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
Cirrhosis of liver: Chronic liver disease wherein normal liver parenchyma is replaced by fibrous tissue.
Coagulopathy: A disorder of the blood where it fails to clot normally.
Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
Congenital disorder of glycosylation type 1H: 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 Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
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.
Dubin-Johnson Syndrome: A rare inherited condition where impaired metabolism of bilirubin results in chronic mild jaundice.
Fatigue: Excessive tiredness or weakness.
Finnish lethal neonatal metabolic syndrome: A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death.
Gall Bladder Cancer: Cancer of the gall bladder.
Gold poisoning: A type of heavy metal poisoning caused by excessive exposure to gold.
Hepatocellular jaundice: A condition which is characterized by jaundice due to injury or damage to the hepatocellular cells of the liver
Hypoplasia hepatic ductular: A rare liver disorder where there are fewer than normal bile ducts in the liver - sometimes all the bile ducts are absent. Alagille syndrome is characterized by this liver abnormalitiy as well as a distinctive face, abnormal vertebrae and retarded physical, mental and sexual development.
Itching skin: Itching feeling of the skin.
Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
Malabsorption syndrome: is an alteration in the ability of the intestine to absorb nutrients adequately into the bloodstream
NISCH syndrome: A rare syndrome characterized by sparse scalp hair, scaly skin and inflammation and fibrosis of the bile ducts.
Nausea: The queasy feeling of nausea and often also vomiting.
No symptoms: The absence of noticable symptoms.
Obesity due to pro-opiomelanocortin Deficiency: A form of monogenic obesity caused by a genetic mutation which results in a deficiency of pro-opiomelanocortin. Monogenic obesity is obesity caused by a mutation in a single gene.
Obstructive Jaundice: Condition where blockage of the flow of bile from the liver causes overspill of bile products into the blood and incomplete bile excretion from the body.
Pain: A feeling of suffering, agony, distress caused by the stimulation of pain fibres in the nervous system
Pancreatic cancer: Pancreatic cancer is a malignant neoplasm of the pancreas
Peroxisome biogenesis disorders: A group of inherited disorders involving the absence or dysfunction of one or more peroxisomal enzymes. Peroxisomes are numerous tiny organs within the cell which are involved in a large number of the body's biochemical reactions.
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.
Pruritus: The sensation of itch
Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
Viral Hepatitis: hepatitis describes inflammation of the liver. Hepatitis may be caused by alcohol, drugs, autoimmune diseases, metabolic diseases, and viruses. Viral infection accounts for more than half the cases of acute hepatitis.
Vitamin K deficiency: Deficiency of vitamin K
Vomiting: Vomiting or retching symptoms.