Cholestasis, benign recurrent intrahepatic, 1

Preferred Label : Cholestasis, benign recurrent intrahepatic, 1;

Symbol : BRIC1;

CISMeF acronym : BRIC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Summerskill syndrome;

Description : Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989). Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' - Genetic Heterogeneity of Benign Recurrent Intrahepatic Cholestasis See also BRIC2 (605479), caused by mutation in the ABCB11 gene (603201) on chromosome 2q24.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, 602397.0006);

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

Prefixed ID : #243300;

Details

Origin ID

243300;

UMLS CUI

C4551899;

Automatic exact mappings (from CISMeF team)
- Benign recurrent intrahepatic cholestasis type 1 [ORDO Disease]
- benign recurrent intrahepatic cholestasis 1 [DO Concept]
Broader ORDO disease(s)
- Benign recurrent intrahepatic cholestasis [ORDO Disease]
Currated CISMeF NLP mapping
- Cholestasis, progressive familial intrahepatic 1 [MeSH concept]
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 1 [ICD-11 More detail]
- benign recurrent intrahepatic cholestasis 1 [Disease (Nov.)]
- cholestasis, progressive familial intrahepatic 1 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 1 [DO Concept]
DO Cross reference
- benign recurrent intrahepatic cholestasis 1 [DO Concept]
Genes related to phenotype
- Atpase, class I, type 8b, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Increased serum bile acid concentration [HPO term]
- Intermittent jaundice [HPO term]
- Intrahepatic cholestasis with episodic jaundice [HPO term]
- Pancreatitis [HPO term]
- Pruritus [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Benign recurrent intrahepatic cholestasis [ORDO Disease]
- Benign recurrent intrahepatic cholestasis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis, progressive familial intrahepatic 1 [MeSH concept]
- Familial intrahepatic cholestasis [ORDO Disease]
- Progressive Familial Intrahepatic Cholestasis [NCIt concept]
- Progressive familial intrahepatic cholestasis [MedDRA Preferred Term]
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
- Progressive intrahepatic cholestasis (disorder) [SNOMED CT concept]
- progressive familial intrahepatic cholestasis [DO Concept]
- progressive intrahepatic cholestasis [SNOMED Notion]
Validated automatic mappings to NTBT
- Benign recurrent intrahepatic cholestasis [ORDO Disease]
- progressive familial intrahepatic cholestasis [Disease (Nov.)]

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