Acral dystrophic epidermolysis bullosa
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DEB, acral DEB-ac |
| Number of Symptoms | 4 |
| OrphanetNr: | 158673 |
| OMIM Id: |
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| ICD-10: |
Q81.2 |
| 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 Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dystrophic epidermolysis bullosa
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 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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