Cholestasis, progressive familial intrahepatic, 2

Preferred Label : Cholestasis, progressive familial intrahepatic, 2;

Symbol : PFIC2;

CISMeF acronym : PFIC2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 11 gene (ABCB11, 603201.0001);

Neoplasia : Increased risk of hepatocellular carcinoma;

Laboratory abnormalities : Conjugated hyperbilirubinemia; Increased serum bile acids; Increased serum alkaline phosphatase; Normal or mildly increased serum gamma-GGT (231950);

Prefixed ID : #601847;

Details

Origin ID

601847;

UMLS CUI

C3489789;

Automatic exact mappings (from CISMeF team)
- ABCB11 wt Allele [NCIt concept]
- ATP binding cassette subfamily B member 11 [ORDO Gene]
- symbol withdrawn PFIC2 [HGNC gene]
Currated CISMeF NLP mapping
- Cholestasis, progressive familial intrahepatic 2 [MeSH concept]
- Progressive familial intrahepatic cholestasis type 2 [ICD-11 More detail]
- Progressive familial intrahepatic cholestasis type 2 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 2 (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 2 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 2 [DO Concept]
DO Cross reference
- progressive familial intrahepatic cholestasis 2 [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily b, member 11 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Death in childhood [HPO term]
- Diarrhea [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Failure to thrive [HPO term]
- Fat malabsorption [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hepatomegaly [HPO term]
- Infantile onset [HPO term]
- Intermittent jaundice [HPO term]
- Intrahepatic cholestasis [HPO term]
- Pruritus [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis, progressive familial intrahepatic 2 [MeSH concept]
- Progressive familial intrahepatic cholestasis type 2 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 2 [ICD-11 More detail]
- Progressive familial intrahepatic cholestasis type 2 (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 2 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 2 [DO Concept]

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