NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ANONYCHIA-ONYCHOLYSIS, ISOLATED ONYCHODYSTROPHY NAIL DYSPLASIA NDNC9 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
614149
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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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0008400) | Onycholysis of distal fingernails | 2 / 7739 | ||||
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(HPO:0001802) | Absent toenail | 6 / 7739 | ||||
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(OMIM) | Dystrophy of free margin of fingernails | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by Rafiq et al., 2004). This disorder is referred to here as nonsyndromic ... |
| Clinical Description OMIM |
Rafiq et al. (2004) reported a 6-generation consanguineous Pakistani family with autosomal recessive transmission of a form of hereditary nail dysplasia. Affected individuals had normal nails at birth, but onychodystrophy began at age 7 or 8 and resulted ... |