Cholestasis, benign recurrent intrahepatic, 2

Preferred Label : Cholestasis, benign recurrent intrahepatic, 2;

Symbol : BRIC2;

CISMeF acronym : BRIC2;

Type : Phenotype, molecular basis known;

Description : Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically (van Mil et al., 2004).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 11 gene (ABCB11, 603201.0002);

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

Prefixed ID : #605479;

Détails

Origin ID

605479;

UMLS CUI

C2608083;

Automatic exact mappings (from CISMeF team)
- ABCB11 wt Allele [NCIt concept]
- benign recurrent intrahepatic cholestasis 2 [DO Concept]
Broader ORDO disease(s)
- Benign recurrent intrahepatic cholestasis [ORDO Disease]
Currated CISMeF NLP mapping
- Benign intrahepatic cholestasis type 2 [ICD-11 More detail]
- Benign intrahepatic cholestasis type 2 (disorder) [SNOMED CT concept]
- Benign recurrent intrahepatic cholestasis type 2 [ORDO Disease]
DO Cross reference
- benign recurrent 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]
- Cholelithiasis [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Hepatomegaly [HPO term]
- Intrahepatic cholestasis [HPO term]
- Jaundice [HPO term]
- Pruritus [HPO term]
ORDO concept(s)
- Benign recurrent intrahepatic cholestasis [ORDO Disease]
- Benign recurrent intrahepatic cholestasis type 2 [ORDO Disease]
See also inter- (CISMeF)
- cholestasis, progressive familial intrahepatic 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign intrahepatic cholestasis type 2 [ICD-11 More detail]
- Benign recurrent intrahepatic cholestasis type 2 [ORDO Disease]
Validated automatic mappings to NTBT
- Benign recurrent intrahepatic cholestasis [ORDO Disease]

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