Odontomicronychial dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 13 |
| OrphanetNr: | 1811 |
| OMIM Id: |
601319
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| ICD-10: |
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| UMLs: |
C1832473 |
| MeSH: |
C537741 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Malformation syndrome with odontal and/or periodontal component
-Rare developmental defect during embryogenesis -Rare odontologic disease Syndromic nail anomaly -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000695) | Natal tooth | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0006323) | Premature loss of primary teeth | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0006337) | Premature eruption of permanent teeth | 2 / 7739 | ||||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0001816) | Thin nail | 11 / 7739 | ||||
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(HPO:0001799) | Short nail | 12 / 7739 | ||||
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(HPO:0008383) | Slow-growing nails | 2 / 7739 | ||||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(OMIM) | Short rhomboid tooth roots | 1 / 7739 | ||||
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(OMIM) | Precocious eruption and shedding of deciduous teeth | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Short, thin, slow growing nails | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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