Hereditary painful callosities
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CALLOSITIES, PAINFUL PLANTAR Plamoplantar keratoderma nummularis Plamoplantar hyperkeratosis nummularis Keratosis palmoplantaris nummularis PPK nummularis |
| Number of Symptoms | 6 |
| OrphanetNr: | 79141 |
| OMIM Id: |
114140
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| ICD-10: |
Q82.8 |
| 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:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Isolated focal palmoplantar keratoderma
-Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Fluid-filled bullae at edges of foot callosities | 1 / 7739 | ||||
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(OMIM) | Painful callosities over pressure points of hands and feet | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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