Bile acid synthesis defect, congenital, 6

Preferred Label : Bile acid synthesis defect, congenital, 6;

Symbol : CBAS6;

CISMeF acronym : CBAS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the branched-chain acyl-CoA oxidase 2 gene (ACOX2, 601641.0001);

Laboratory abnormalities : Abnormally increased liver enzymes; Normal levels serum levels of phytanic and pristanic acids; Decreased cholesterol; Vitamin D deficiency (patient A); Hypolipidemia (patient A); Increased serum and urine C27 bile acid intermediates DHCA and THCA;

Prefixed ID : #617308;

Details

Origin ID

617308;

UMLS CUI

C4310624;

CISMeF manual mappings
- congenital bile acid synthesis defect 6 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 6 [DO Concept]
Genes related to phenotype
- Acyl-coa oxidase 2, branched-chain [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Dysmetria [HPO term]
- Global developmental delay [HPO term]
- Hypolipidemia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Low levels of vitamin D [HPO term]
- Slurred speech [HPO term]
- Steatorrhea [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital bile acid synthesis defect 6 [DO Concept]

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