Hypercholanemia, familial 1

Preferred Label : Hypercholanemia, familial 1;

Symbol : FHCA1;

CISMeF acronym : FHCA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bile acid, elevated serum;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the epoxide hydroxylase 1 gene (EPHX1, 132810.0003);

Laboratory abnormalities : Elevated serum bile acids (hypercholanemia);

Prefixed ID : #607748;

Details

Origin ID

607748;

UMLS CUI

C5542604;

Currated CISMeF NLP mapping
- Familial hypercholanemia [ORDO Disease]
- Familial hypercholanemia (disorder) [SNOMED CT concept]
- familial hypercholanemia [Disease (Nov.)]
- hypercholanemia, familial [MeSH concept]
- hypercholanemia, familial [MeSH Supplementary Concept]
Genes related to phenotype
- Tight junction protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Fat malabsorption [HPO term]
- Increased serum bile acid concentration [HPO term]
- Low levels of vitamin K [HPO term]
- Pruritus [HPO term]
- Rickets [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Familial hypercholanemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypercholanemia [ORDO Disease]
- Familial hypercholanemia (disorder) [SNOMED CT concept]
- familial hypercholanemia [Disease (Nov.)]
- hypercholanemia, familial [MeSH Supplementary Concept]
- hypercholanemia, familial [MeSH concept]

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