Hereditary hypercarotenemia and vitamin A deficiency
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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3
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OrphanetNr:
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199285
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OMIM Id:
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115300
277350
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ICD-10:
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E50
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant
[Orphanet]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Disorder of other vitamins and cofactors metabolism and transport
-Rare genetic disease
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1
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(HPO:0000951)
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Abnormality of the skin |
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147 / 7739
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2
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(HPO:0004905)
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Vitamin A deficiency |
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3 / 7739
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3
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |