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Hereditary hypercarotenemia and vitamin A deficiency(HCVAD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Hypercarotenemia and vitamin a deficiency, autosomal dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): BCO1 (16q23.2)
Monarch Initiative: MONDO:0007272
OMIM®: 115300
Orphanet: ORPHA199285


In hypercarotenemia and vitamin A deficiency (HCVAD), serum beta-carotene levels are very high, but serum vitamin A levels are low to low-normal. Yellow or orange discoloration of skin may be present (summary by Lindqvist et al., 2007). See also 277350 for possible autosomal recessive inheritance. [from OMIM]

Clinical features

From HPO
Reduced circulating vitamin A concentration
MedGen UID:
Concept ID:
Disease or Syndrome
Concentration of vitamin A below the lower limit of normal in the blood circulation.
Increased circulating beta-carotene concentration
MedGen UID:
Concept ID:
The concentration of beta-carotene in the blood circulation is above the upper limit of normal.
Abnormality of the skin
MedGen UID:
Concept ID:
Congenital Abnormality
An abnormality of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary hypercarotenemia and vitamin A deficiency

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