Bile acid synthesis defect, congenital, 4

Preferred Label : Bile acid synthesis defect, congenital, 4;

Symbol : CBAS4;

CISMeF acronym : CBAS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Trihydroxycoprostanic acid in bile; Cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-methylacyl-CoA racemase gene (AMACR, 604489.0001);

Laboratory abnormalities : Hyperbilirubinemia; Abnormal liver function tests; Decreased serum cholesterol; Increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (THCA) in bile, urine, and serum;

Prefixed ID : #214950;

Details

Origin ID

214950;

UMLS CUI

C1858328;

Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 4 [MeSH concept]
- Congenital bile acid synthesis defect type 2 [ICD-11 More detail]
- Congenital bile acid synthesis defect type 4 [ICD-11 More detail]
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- bile acid synthesis defect, congenital, 4 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 4 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 4 [DO Concept]
Genes related to phenotype
- Alpha-methylacyl-coa racemase [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Abnormality of the coagulation cascade [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Fat malabsorption [HPO term]
- Giant cell hepatitis [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Intrahepatic cholestasis [HPO term]
- Neonatal jaundice [HPO term]
- Neonatal onset [HPO term]
- Prolonged neonatal jaundice [HPO term]
ORDO concept(s)
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
See also inter- (CISMeF)
- congenital bile acid synthesis defect 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bile acid synthesis defect, congenital, 4 [MeSH concept]
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- Congenital bile acid synthesis defect type 4 [ICD-11 More detail]
- bile acid synthesis defect, congenital, 4 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 4 [DO Concept]

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