Bile acid synthesis defect, congenital, 1

Preferred Label : Bile acid synthesis defect, congenital, 1;

Symbol : CBAS1;

CISMeF acronym : CBAS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency;

Description : Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). - Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q32; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q21; and CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase gene (HSD3B7, 607764.0001);

Laboratory abnormalities : Increased serum bilirubin; Abnormal liver function tests; Decreased serum cholesterol; Normal serum levels of gamma-GGT (231950);

Prefixed ID : #607765;

Details

Origin ID

607765;

UMLS CUI

C1843116;

Automatic exact mappings (from CISMeF team)
- Cholestasis, progressive familial intrahepatic 4 [MeSH concept]
- Idiopathic malabsorption due to bile acid synthesis defects [ORDO Disease]
Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 1 [MeSH concept]
- Congenital bile acid synthesis defect type 1 [ICD-11 More detail]
- Congenital bile acid synthesis defect type 1 [ORDO Disease]
- bile acid synthesis defect, congenital, 1 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 1 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 1 [DO Concept]
Genes related to phenotype
- 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Abnormality of the coagulation cascade [HPO term]
- Acholic stools [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Diarrhea [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]
- Hypocholesterolemia [HPO term]
- Intrahepatic cholestasis [HPO term]
- Jaundice [HPO term]
- Neonatal onset [HPO term]
- Rickets [HPO term]
- Splenomegaly [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Congenital bile acid synthesis defect type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Bile acid synthesis defect, congenital, 1 [MeSH concept]
- Congenital bile acid synthesis defect type 1 [ORDO Disease]
- Congenital bile acid synthesis defect type 1 [ICD-11 More detail]
- bile acid synthesis defect, congenital, 1 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 1 [DO Concept]
Validated automatic mappings to NTBT
- congenital bile acid synthesis defect [DO Concept]

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