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Details of CIRH1A gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| North American Indian childhood cirrhosis (NAIC) [MIM:604901]: Severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology. Note=The disease is caused by mutations affecting the gene represented in this entry. |
604901 |
