KERATOSIS PALMOPLANTARIS STRIATA II
General Information (adopted from Orphanet):
| Synonyms, Signs: |
KERATODERMA, PALMOPLANTAR, STRIATE FORM II STRIATE PALMOPLANTAR KERATODERMA II SPPK2 PPKS2 KPPS2 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
612908
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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:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000982) | Palmoplantar keratoderma | 40 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Armstrong et al. (1999) studied a large family segregating autosomal dominant striate palmoplantar keratoderma. Affected individuals developed palmoplantar thickening in the first or early second decade of life. This was most prominent in a linear pattern along the ... |
| Molecular genetics OMIM |
In affected members of a large family with a striate form of palmoplantar keratoderma mapping to chromosome 6p21, Armstrong et al. (1999) identified heterozygosity for a mutation in the DSP gene (125647.0001). The authors stated that this was ... |