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GTR Home > Conditions/Phenotypes > Hereditary hypercarotenemia and vitamin A deficiency

Hereditary hypercarotenemia and vitamin A deficiency

Synonyms
Hypercarotenemia and vitamin a deficiency, autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCDO, BCDO1, BCMO, BCMO1, BCO, BCO1
    Summary: beta-carotene oxygenase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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