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last update : 22-02-2010
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
    Gene product
    Name oxysterol 7 alpha-hydroxylase