Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benign recurrent intrahepatic cholestasis is a rare autosomal recessive disorder characterized by repeated episodes of intense pruritus and jaundice. Each attack lasts from several weeks to months before resolving spontaneously. Patients are completely asymptomatic for months to years between symptomatic periods. The disorder does not lead to progressive liver disease. Although attacks seem to be associated with a viral prodrome, an inciting viral agent or toxin has not been defined. Genetic studies have mapped the defect of this disorder to the long arm of chromosome 18 and a gene that codes for a P-type ATPase, which appears to be involved in aminophospholipid transport. Therapy during symptomatic periods is supportive and aimed at relief of severe pruritus until the episode resolves spontaneously.
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PMID:Benign recurrent intrahepatic cholestasis. 1129 Dec 37

Benign recurrent intrahepatic cholestasis (BRIC) is a rare inherited liver disease characterized by recurrent attacks of severe cholestasis with no progression to end stage liver disease. Patients have jaundice, however, serum gamma-glutamyltransferase and cholesterol levels remain within the normal range during the attacks. Three mutations in the familial intrahepatic cholestasis 1 (ATP8B1) gene encoding a P-type ATPase have been reported so far in patients with the autosomal recessive form of BRIC. A novel rare type insertion-deletion mutation, also called indel, was found in exon 24 of ATP8B1 in our patient together with a known missense mutation 1982T>C in exon 17. The mechanism of the indel formation is proposed and impact of the indel mutation on the function of ATP8B1 protein is discussed.
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PMID:Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. 1534 67