Cholestasis, progressive familial intrahepatic, 3

Preferred Label : Cholestasis, progressive familial intrahepatic, 3;

Symbol : PFIC3;

CISMeF acronym : PFIC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mdr3 deficiency; Cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 4 gene (ABCB4, 171060.0001);

Laboratory abnormalities : Increased serum gamma-GGT (231950); Abnormal liver function tests; Increased serum bile acids;

Prefixed ID : #602347;

Details

Origin ID

602347;

UMLS CUI

C1865643;

Automatic exact mappings (from CISMeF team)
- ABCB4 wt Allele [NCIt concept]
- ATP binding cassette subfamily B member 4 [ORDO Gene]
Currated CISMeF NLP mapping
- Cholestasis, progressive familial intrahepatic 3 [MeSH concept]
- Progressive familial intrahepatic cholestasis type 3 [ICD-11 More detail]
- Progressive familial intrahepatic cholestasis type 3 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 3 (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 3 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 3 [DO Concept]
DO Cross reference
- progressive familial intrahepatic cholestasis 3 [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily b, member 4 [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Cirrhosis [HPO term]
- Diarrhea [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatomegaly [HPO term]
- Heterogeneous [HPO term]
- Infantile onset [HPO term]
- Intrahepatic cholestasis [HPO term]
- Jaundice [HPO term]
- Malabsorption [HPO term]
- Portal fibrosis [HPO term]
- Pruritus [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis, progressive familial intrahepatic 3 [MeSH concept]
- Progressive familial intrahepatic cholestasis type 3 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 3 [ICD-11 More detail]
- Progressive familial intrahepatic cholestasis type 3 (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 3 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 3 [DO Concept]

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