Cholestasis, Benign Recurrent Intrahepatic malady
Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Reproductive diseases, Gastrointestinal diseases
Aliases & Descriptions for Cholestasis, Benign Recurrent Intrahepatic:
Orphanet epidemiological data:52
benign recurrent intrahepatic cholestasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy
cholestasis, benign recurrent intrahepatic:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Liver diseases, Reproductive diseases, Gastrointestinal diseases
NIH Rare Diseases:46 Benign recurrent intrahepatic cholestasis 1 (bric1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. these episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years. most people with bric1 have their first episode of cholestasis in their teens or twenties. symptoms often present with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. bric1 is caused by mutations in the atp8b1 gene. this condition is inherited in an autosomal recessive pattern. bric1 generally does not cause lasting damage to the liver. however, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (pfic). bric and pfic are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity. last updated: 1/14/2013
MalaCards based summary: Cholestasis, Benign Recurrent Intrahepatic, also known as benign recurrent intrahepatic cholestasis, is related to low gamma-gt familial intrahepatic cholestasis and cholestasis, benign recurrent intrahepatic, 2, and has symptoms including pruritus, weight loss and anorexia. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic is ATP8B1 (ATPase Phospholipid Transporting 8B1). Affiliated tissues include liver, skin and eye, and related mouse phenotype liver/biliary system.
Genetics Home Reference:24 Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.
OMIM:50 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic... (243300) more...
UniProtKB/Swiss-Prot:68 Cholestasis, benign recurrent intrahepatic, 1: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.
Symptoms by clinical synopsis from OMIM:243300
Clinical features from OMIM:243300
Symptoms:52 (show all 16)
HPO human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic:(show all 20)
UMLS symptoms related to Cholestasis, Benign Recurrent Intrahepatic:diarrhea, hepatomegaly, pruritus, yellow complexion, hepatocellular jaundice
MalaCards organs/tissues related to Cholestasis, Benign Recurrent Intrahepatic:34
Liver, Skin, Eye
Articles related to Cholestasis, Benign Recurrent Intrahepatic:
UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic:68
Clinvar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic:5
Search GEO for disease gene expression data for Cholestasis, Benign Recurrent Intrahepatic.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet