Erythrokeratoderma \"en cocardes\"
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 2 |
| OrphanetNr: | 315 |
| OMIM Id: |
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| ICD-10: |
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: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Erythrokeratoderma
-Rare skin disease Genetic erythrokeratoderma -Rare genetic disease |
Symptom Information:
|
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Very frequent [Orphanet] | 105 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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