Isolated punctate palmoplantar keratoderma
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Isolated punctate PPK
Isolated punctate palmoplantar hyperkeratosis
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Number of Symptoms
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9
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OrphanetNr:
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2338
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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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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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Punctate palmoplantar keratoderma
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0009726)
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Renal neoplasm |
Occasional [Orphanet]
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20 / 7739
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2
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(HPO:0100013)
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Neoplasm of the breast |
Occasional [Orphanet]
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18 / 7739
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3
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(HPO:0002894)
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Neoplasm of the pancreas |
Occasional [Orphanet]
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17 / 7739
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4
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(HPO:0100273)
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Neoplasm of the colon |
Occasional [Orphanet]
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18 / 7739
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5
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(HPO:0001597)
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Abnormality of the nail |
Frequent [Orphanet]
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115 / 7739
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6
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(HPO:0000962)
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Hyperkeratosis |
Very frequent [Orphanet]
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216 / 7739
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7
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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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8
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(HPO:0002665)
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Lymphoma |
Occasional [Orphanet]
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60 / 7739
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9
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(HPO:0012740)
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Papilloma |
Very frequent [Orphanet]
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17 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |