Keratosis palmaris et plantaris - clinodactyly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Palmoplantar keratoderma - clinodactyly
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Number of Symptoms
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11
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OrphanetNr:
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86919
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OMIM Id:
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148520
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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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<
20
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:0001357)
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Plagiocephaly |
Frequent [Orphanet]
|
|
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106 / 7739
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2
|
(HPO:0007447)
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Diffuse palmoplantar hyperkeratosis |
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8 / 7739
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3
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(HPO:0000972)
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Palmoplantar hyperkeratosis |
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41 / 7739
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4
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Very frequent [Orphanet]
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288 / 7739
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5
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(HPO:0010783)
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Erythema |
Frequent [Orphanet]
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|
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138 / 7739
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6
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(HPO:0008064)
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Ichthyosis |
Very frequent [Orphanet]
|
|
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108 / 7739
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7
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(HPO:0000962)
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Hyperkeratosis |
Very frequent [Orphanet]
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216 / 7739
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8
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(HPO:0100725)
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Lichenification |
Frequent [Orphanet]
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14 / 7739
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9
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(HPO:0000982)
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Palmoplantar keratoderma |
|
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40 / 7739
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10
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(HPO:0000951)
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Abnormality of the skin |
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147 / 7739
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11
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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 |