Focal palmoplantar and gingival keratoderma
General Information (adopted from Orphanet):
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Synonyms, Signs:
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FOCAL PALMOPLANTAR AND GINGIVAL HYPERKERATOSIS SYNDROME
Focal palmoplantar and gingival hyperkeratosis
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Number of Symptoms
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17
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OrphanetNr:
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2200
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OMIM Id:
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148730
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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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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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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 associated with focal palmoplantar keratoderma as a major feature
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0000163)
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Abnormality of the oral cavity |
Very frequent [Orphanet]
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37 / 7739
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2
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(HPO:0000168)
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Abnormality of the gingiva |
Very frequent [Orphanet]
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51 / 7739
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3
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(HPO:0001357)
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Plagiocephaly |
Frequent [Orphanet]
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106 / 7739
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4
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(HPO:0000222)
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Gingival hyperkeratosis |
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2 / 7739
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5
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(HPO:0007497)
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Focal friction-related palmoplantar hyperkeratosis |
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1 / 7739
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6
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(HPO:0000962)
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Hyperkeratosis |
Very frequent [Orphanet]
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216 / 7739
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7
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(HPO:0008392)
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Subungual hyperkeratosis |
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6 / 7739
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8
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(HPO:0008399)
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Circumungual hyperkeratosis |
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4 / 7739
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9
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(HPO:0001805)
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Thick nail |
Very frequent [Orphanet]
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96 / 7739
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10
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(HPO:0001597)
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Abnormality of the nail |
Frequent [Orphanet]
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115 / 7739
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11
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(OMIM)
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Retromolar pad hyperkeratosis |
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1 / 7739
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12
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(OMIM)
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Finely papillated gingival epithelium shows paranuclear bodies in the keratinocytes of the spinous and granular cell layers |
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1 / 7739
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13
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(OMIM)
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Lateral border of tongue hyperkeratosis |
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1 / 7739
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14
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(OMIM)
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Hyperkeratinization and acanthosis with prominent papillary projections of gingival epithelium without atypia |
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1 / 7739
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15
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(OMIM)
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3 patterns of tonofilaments in keratinocyte cytoplasm - paranuclear bodies, tonofibrils, and dense aggregates |
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1 / 7739
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16
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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17
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(OMIM)
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Palate hyperkeratosis |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |