HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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7
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OrphanetNr:
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OMIM Id:
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277350
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ICD-10:
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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 recessive inheritance
[Omim]
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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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No data available.
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1
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(HPO:0000662)
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Nyctalopia |
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92 / 7739
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2
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(HPO:0007462)
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Bitot spots of the conjunctiva |
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1 / 7739
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3
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(HPO:0007502)
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Follicular hyperkeratosis |
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12 / 7739
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4
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(HPO:0004905)
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Vitamin A deficiency |
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3 / 7739
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5
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(OMIM)
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Defective intestinal enzymatic conversion of beta-carotene to retinol |
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1 / 7739
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6
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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7
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(OMIM)
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Very low plasma levels of vitamin A |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |