Diffuse palmoplantar keratoderma-acrocyanosis syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome
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Number of Symptoms
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3
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OrphanetNr:
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86918
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OMIM Id:
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ICD-10:
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Q82.8
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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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10
cases
[Orphanet]
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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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Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0000962)
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Hyperkeratosis |
Very frequent [Orphanet]
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216 / 7739
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2
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(HPO:0001063)
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Acrocyanosis |
Very frequent [Orphanet]
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56 / 7739
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3
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(HPO:0001072)
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Thickened skin |
Very frequent [Orphanet]
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87 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |