Cholestasis, progressive familial intrahepatic, 4

Preferred Label : Cholestasis, progressive familial intrahepatic, 4;

Symbol : PFIC4;

CISMeF acronym : PFIC4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tight junction protein 2 gene (TJP2, 607709.0002);

Neoplasia : Hepatocellular carcinoma, childhood onset (reported in 2 patients);

Laboratory abnormalities : Normal or mildly increased serum gamma-glutamyltransferase (GGT);

Prefixed ID : #615878;

Details

Origin ID

615878;

UMLS CUI

C2931067;

Automatic exact mappings (from CISMeF team)
- bile acid synthesis defect, congenital, 1 [MeSH Supplementary Concept]
CISMeF manual mappings
- Progressive familial intrahepatic cholestasis type 4 [ORDO Disease]
Currated CISMeF NLP mapping
- Cholestasis, progressive familial intrahepatic 4 [MeSH concept]
- progressive familial intrahepatic cholestasis 4 [DO Concept]
DO Cross reference
- progressive familial intrahepatic cholestasis 4 [DO Concept]
Genes related to phenotype
- Tight junction protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Hepatic failure [HPO term]
- Hepatocellular carcinoma [HPO term]
- Infantile onset [HPO term]
- Intrahepatic cholestasis [HPO term]
- Neonatal onset [HPO term]
- Portal hypertension [HPO term]
- Progressive [HPO term]
ORDO concept(s)
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 2 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 4 [ORDO Disease]
See also inter- (CISMeF)
- Congenital bile acid synthesis defect type 1 [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis, progressive familial intrahepatic 4 [MeSH concept]
- Progressive familial intrahepatic cholestasis type 4 [ORDO Disease]

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