Palmoplantar keratoderma-deafness syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PPK-deafness syndrome Palmoplantar hyperkeratosis-hearing loss syndrome Palmoplantar hyperkeratosis-deafness syndrome Palmoplantar keratoderma-hearing loss syndrome |
| Number of Symptoms | 6 |
| OrphanetNr: | 2202 |
| OMIM Id: |
148350
|
| ICD-10: |
Q82.8 |
| UMLs: |
C1835672 |
| MeSH: |
C536152 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 10 families [Orphanet] |
| Inheritance: |
Autosomal dominant Mitochondrial inheritance [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
-Rare genetic disease -Rare skin disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000972) | Palmoplantar hyperkeratosis | 41 / 7739 | ||||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Hearing loss, high frequency, slowly progressive (onset in early childhood) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Sharland et al. (1992) reported a family that appeared to validate a syndrome of palmoplantar hyperkeratosis and sensorineural deafness as an autosomal dominant disorder. Male-to-male transmission was observed. Progressive, bilateral, high-frequency sensorineural hearing loss had its onset in ... |
| Molecular genetics OMIM |
Heathcote et al. (2000) identified a missense mutation in the GJB2 gene (121011.0015) segregating with the phenotype in the family reported by Sharland et al. (1992) with deafness and palmoplantar keratoderma. Heathcote et al. (2000) proposed that the ... |