Anonychia with flexural pigmentation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 69125 |
| OMIM Id: |
106750
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| ICD-10: |
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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:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Syndromic nail anomaly -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0001798) | Anonychia | 28 / 7739 | ||||
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(HPO:0007471) | Axillary and groin hyperpigmentation and hypopigmentation | 1 / 7739 | ||||
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(HPO:0000958) | Dry skin | 152 / 7739 | ||||
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(OMIM) | Dry skin of soles and palms | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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