Familial keratoacanthoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Multiple keratoacanthoma Hereditary keratoacanthoma |
| Number of Symptoms | 8 |
| OrphanetNr: | 493 |
| OMIM Id: |
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| ICD-10: |
L85.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Benign tumor of palpebral epidermis
-Rare eye disease -Rare genetic disease Genetic skin tumor -Rare genetic disease Palpebral tumor -Rare eye disease -Rare genetic disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0009720) | Adenoma sebaceum | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0012740) | Papilloma | Frequent [Orphanet] | 17 / 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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