KERATOSIS PALMOPLANTARIS STRIATA III
General Information (adopted from Orphanet):
| Synonyms, Signs: |
KERATODERMA, PALMOPLANTAR, STRIATE FORM III STRIATE PALMOPLANTAR KERATODERMA III SPPK3 PPKS3 KPPS3 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
607654
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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 |
Whittock et al. (2002) studied a 4-generation family of British descent with striate palmoplantar keratoderma. Autosomal dominant inheritance was demonstrated. Affected individuals presented during early childhood with PPKS on the palms and more diffuse changes on the soles. ... |
| Molecular genetics OMIM |
By direct sequencing, Whittock et al. (2002) found a frameshift mutation in exon 9 (1628delG; 139350.0012) of the KRT1 gene that led to the partial loss of the glycine loop motif in the V2 domain and the gain ... |