Bile acid synthesis defect, congenital, 2

Preferred Label : Bile acid synthesis defect, congenital, 2;

Symbol : CBAS2;

CISMeF acronym : CBAS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the delta-4-3-oxosteroid 5-beta-reductase gene (AKR1D1, 604741.0001);

Laboratory abnormalities : Hyperbilirubinemia; Abnormal liver function tests; Increased serum alkaline phosphatase; Normal serum levels of gamma-GGT (231950); Decreased or absent serum and urinary chenodeoxycholic acid and cholic acid;

Prefixed ID : #235555;

Details

Origin ID

235555;

UMLS CUI

C1856127;

Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 2 [MeSH concept]
- Congenital bile acid synthesis defect type 2 [ICD-11 More detail]
- Congenital bile acid synthesis defect type 2 [ORDO Disease]
- bile acid synthesis defect, congenital, 2 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 2 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 2 [DO Concept]
Genes related to phenotype
- Aldo-keto reductase family 1, member d1 [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Abnormality of the coagulation cascade [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Intrahepatic cholestasis [HPO term]
- Jaundice [HPO term]
- Neonatal onset [HPO term]
- Splenomegaly [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Congenital bile acid synthesis defect type 2 [ORDO Disease]
See also inter- (CISMeF)
- bile acid synthesis defect, congenital, 4 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bile acid synthesis defect, congenital, 2 [MeSH concept]
- Congenital bile acid synthesis defect type 2 [ORDO Disease]
- Congenital bile acid synthesis defect type 2 [ICD-11 More detail]
- Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder) [SNOMED CT concept]
- bile acid synthesis defect, congenital, 2 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 2 [DO Concept]

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