Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2)

Alias:
Pfic2
Progressive Familial Intrahepatic Cholestasis Type 2
Cholestasis, Progressive Familial Intrahepatic 2
Bsep Deficiency
Progressive Familial Intrahepatic Cholestasis 2
Cholestasis, Intrahepatic, Familial, Progressive, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cholestasis, Progressive Familial Intrahepatic, 2, also known as pfic2, is related to familial intrahepatic cholestasis and biliary atresia, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drug Bile Acids and Salts has been mentioned in the context of this disorder. Affiliated tissues include liver and spleen, and related phenotypes are failure to thrive and splenomegaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
23
128
22

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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