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Hereditary hypercarotenemia and vitamin A deficiency(HCVAD)

MedGen UID:
393944
•Concept ID:
C2676023
•
Disease or Syndrome
Synonym: Hypercarotenemia and vitamin a deficiency, autosomal dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): BCO1 (16q23.2)
 
Monarch Initiative: MONDO:0007272
OMIM®: 115300
Orphanet: ORPHA199285

Definition

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:
22668
•Concept ID:
C0042842
•
Disease or Syndrome
Concentration of vitamin A below the lower limit of normal in the blood circulation.
See: Feature record | Search on this feature
Increased circulating beta-carotene concentration
MedGen UID:
1053230
•Concept ID:
CN376484
•
Finding
The concentration of beta-carotene in the blood circulation is above the upper limit of normal.
See: Feature record | Search on this feature
Abnormality of the skin
MedGen UID:
11449
•Concept ID:
C0037268
•
Congenital Abnormality
An abnormality of the skin.
See: Feature record | Search on this feature
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Term Hierarchy

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

Supplemental Content

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    Clinical resources

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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