Hyperkeratosis-hyperpigmentation syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 1336 |
| OMIM Id: |
144190
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| ICD-10: |
L81.8 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: | 10 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Infancy Childhood Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
-Rare genetic disease -Rare skin disease Genetic hyperpigmentation of the skin -Rare genetic disease Hyperpigmentation of the skin -Rare skin disease |
Symptom Information:
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0000992) | Cutaneous photosensitivity | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0007400) | Irregular hyperpigmentation | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0000957) | Cafe-au-lait spot | Frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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