| Symbol
| CYP7B1
|
| Location
| 8q12.3
|
| Name
|
severe cholestasis |
| Other name(s)
|
hemochromatosis, neonatal
giant cell hepatitis |
| Corresponding gene
|
CYP7B1
|
| Other symbol(s)
| NH, NHC
|
| Main clinical features
|
inborn error of bile acid synthesis, neonatal cirrhosis and liver synthesis failure with extremely high levels of 27-hydroxycholesterol
jaundice with early onset, hepatosplenomegaly and increased bleeding; serum AST, ALT, and alkaline phosphatase enzymes were markedly elevated and prothrombin time was prolonged; liver biopsy showed marked increase in portal connective tissue with bridging fibrosis and probable cirrhosis |
Genetic determination
| Related entries
| . including giant cell hepatitis neonatal with idiopathic neonatal hemochromatosis
. including CBAS3, bile acid synthesis defect, congenital 3 (OMIM 603711)
|
| Function/system disorder
| digestive tract/liver and annex |
| Type
| disease
| |