Cholestasis, Benign Recurrent Intrahepatic, 1 (BRIC1)

Alias:

Benign Recurrent Intrahepatic Cholestasis

Bric1

Benign Recurrent Intrahepatic Cholestasis Type 1

Summerskill-Walshe-Tygstrup Syndrome

Bric

Cholestasis, Benign Recurrent Intrahepatic

Summerskill Syndrome

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Benign Recurrent Intrahepatic Cholestasis 1

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Bric - [benign Recurrent Intrahepatic Cholestasis]

Cholestasis, Progressive Familial Intrahepatic 3

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Progressive Intrahepatic Cholestasis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cholestasis, Benign Recurrent Intrahepatic, 1, also known as benign recurrent intrahepatic cholestasis, is related to cholestasis, benign recurrent intrahepatic, 2 and atp8b1 deficiency, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include liver and pancreas, and related phenotypes are fatigue and elevated hepatic transaminase

Related ID：

MALACARDS：CHL134

OMIM：243300

MESH：D002780

ICD11：288945286