Odontomatosis - aortae esophagus stenosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Boder syndrome |
| Number of Symptoms | 9 |
| OrphanetNr: | 2724 |
| OMIM Id: |
164330
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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 dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
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:0100612) | Odontogenic neoplasm | Very frequent [Orphanet] | 5 / 7739 | |||
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(HPO:0011068) | Odontoma | 6 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0001399) | Hepatic failure | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0002575) | Tracheoesophageal fistula | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0002621) | Atherosclerosis | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
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(OMIM) | Esophageal smooth muscle hypertrophy | 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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