Trichodysplasia - amelogenesis imperfecta
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 3 |
| OrphanetNr: | 79129 |
| OMIM Id: |
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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: | 1 family [Orphanet] |
| Inheritance: |
X-linked recessive [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 Genetic malformation syndrome with odontal and/or periodontal component -Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease |
Symptom Information:
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(HPO:0000682) | Abnormality of dental enamel | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0010719) | Abnormality of hair texture | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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