Progressive Familial Intrahepatic Cholestasis (PFIC)

Alias:
Cholestasis, Progressive Familial Intrahepatic
Abcb4-Related Intrahepatic Cholestasis
Pfic - [progressive Familial Intrahepatic Cholestasis]
Cholestasis, Intrahepatic, Familial, Progressive
Low Γ-Gt Familial Intrahepatic Cholestasis
Abcb11-Related Intrahepatic Cholestasis
Atp8b1-Related Intrahepatic Cholestasis
Pfic; Byler Disease
Mdr3 Deficiency
Bsep Deficiency
Fic1 Deficiency
Byler Syndrome
Byler Disease
Pfic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progressive Familial Intrahepatic Cholestasis, also known as cholestasis, progressive familial intrahepatic, is related to cholestasis, progressive familial intrahepatic, 5 and cholestasis, progressive familial intrahepatic, 4, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Progressive Familial Intrahepatic Cholestasis 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 drugs Bile Acids and Salts and Cholestyramine Resin have been mentioned in the context of this disorder. Affiliated tissues include liver and pancreas, and related phenotypes are failure to thrive and splenomegaly
Related ID:
ICD11:1457142642

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
50
341
62

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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