Biomaterial Database

Nonhemolytic hyperbilirubinemias. 1980

I J Hollander

The familial nonhemolytic hyperbilirubinemias include the syndromes of Gilbert, Crigler-Najjar, Dubin-Johnson and Rotor. Gilbert's syndrome is probably very common in occult form, and patients come to clinical attention partially owing to subtle coincidental hemolysis. The biochemical defect may lie not in microsomal glucuronyl transferase but rather in the plasma membrane enzyme which transglucuronidates bilirubin monoglucuronide to diglucuronide. Patients with Crigler-Najjar type I, a severe disease, exhibit virtual absence of glucuronyltransferase. Type II is milder and appears related to Gilbert's syndrome. Dubin-Johnson's syndrome and Rotor's syndrome, the conjugated hyperbilirubinemias, are separate entities. The former is a block in hepatic excretion, while the defect in the latter lies at least partially in uptake of bilirubin.

UI	MeSH Term	Description	Entries
D007566	Jaundice, Chronic Idiopathic	A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract.	Dubin-Johnson Syndrome,Hyperbilirubinemia 2,Hyperbilirubinemia II,Chronic Idiopathic Jaundice,Chronic Idiopathic Jaundices,Dubin Johnson Syndrome,Hyperbilirubinemia 2s,Hyperbilirubinemia IIs,Idiopathic Jaundice, Chronic,Idiopathic Jaundices, Chronic,Jaundices, Chronic Idiopathic,Syndrome, Dubin-Johnson
D003414	Crigler-Najjar Syndrome	A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.	Crigler Najjar Syndrome,Crigler Najjar Syndrome, Type 1,Crigler-Najar Syndrome,Crigler-Najjar Syndrome, Type I,Familial Nonhemolytic Unconjugated Hyperbilirubinemia,Hereditary Unconjugated Hyperbilirubinemia,Crigler Najar Syndrome,Crigler Najjar Syndrome, Type I,Crigler Najjar Syndromes,Hereditary Unconjugated Hyperbilirubinemias,Hyperbilirubinemia, Hereditary Unconjugated,Najjar Syndrome, Crigler,Syndrome, Crigler Najjar,Unconjugated Hyperbilirubinemia, Hereditary
D005878	Gilbert Disease	A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.	Constitutional Liver Dysfunction,Familial Nonhemolytic Jaundice,Gilbert Syndrome,Gilbert's Disease,Gilbert's Syndrome,Gilbert-Lereboullet Syndrome,Hyperbilirubinemia 1,Hyperbilirubinemia I,Hyperbilirubinemia, Arias Type,Meulengracht Syndrome,Unconjugated Benign Bilirubinemia,Arias Type Hyperbilirubinemia,Arias Type Hyperbilirubinemias,Disease, Gilbert,Disease, Gilbert's,Gilberts Disease,Gilberts Syndrome,Hyperbilirubinemia 1s,Hyperbilirubinemias, Arias Type,Syndrome, Gilbert,Syndrome, Gilbert's
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006933	Hyperbilirubinemia, Hereditary	Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.	Rotor Syndrome,Hyperbilirubinemia, Rotor Type,Hereditary Hyperbilirubinemia,Hereditary Hyperbilirubinemias,Hyperbilirubinemias, Hereditary,Rotor Type Hyperbilirubinemia,Syndrome, Rotor