Disease Information
| CUI | C0022350 |
|---|---|
| Disease Name | Jaundice, Chronic Idiopathic |
| Synonymous | CHRONIC IDIOPATHIC JAUNDICE Chronic Idiopathic Jaundices Idiopathic Jaundices, Chronic Jaundices, Chronic Idiopathic Idiopathic Jaundice, Chronic Dubin-Johnson Syndrome Dubin Johnson syndrome Syndrome, Dubin-Johnson DUBIN-SPRINZ DISEASE Black liver-jaundice syndrome Chronic idiopathic jaundice with pigmented liver Dubin-Sprinz syndrome Icterus-hepatic pigmentation syndrome Spinz-Nelson syndrome DJS - Dubin-Johnson syndrome Hyperbilirubinemia II Hyperbilirubinaemia II Dubin-Johnson syndrome (disorder) |
| Description | 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. |
Gene Information
| CUI | Disease | Gene Symbol | Table Name |
|---|---|---|---|
| C0022350 | liver disease, chronic | HFE | GAD |
