Hypercarotenemia and vitamin a deficiency, autosomal dominant

Preferred Label : Hypercarotenemia and vitamin a deficiency, autosomal dominant;

Symbol : HCVAD;

CISMeF acronym : HCVAD;

Type : Phenotype, molecular basis known;

Included titles and symbols : Carotenoids, plasma level of, quantitative trait locus 1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-carotene 15,15-prime-monooxygenase 1 gene (BCMO1, 605748.0001).;

Laboratory abnormalities : Increased serum beta-carotene; Decreased conversion of beta-carotene to vitamin A (retinol); Decreased serum vitamin A;

Prefixed ID : #115300;

Details

Origin ID

115300;

UMLS CUI

C2676023;

Automatic exact mappings (from CISMeF team)
- hypercarotenemia and vitamin A deficiency, autosomal dominant [MeSH concept]
- hypercarotenemia and vitamin A deficiency, autosomal dominant [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Hereditary hypercarotenemia and vitamin A deficiency [ORDO Disease]
DO Cross reference
- carotenemia [DO Concept]
Genes related to phenotype
- Beta-carotene oxygenase 1 [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Low levels of vitamin A [HPO term]
ORDO concept(s)
- Hereditary hypercarotenemia and vitamin A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypercarotenemia and vitamin A deficiency, autosomal dominant [MeSH Supplementary Concept]
- hypercarotenemia and vitamin A deficiency, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary hypercarotenemia and vitamin A deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients