Second branchial cleft anomaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Second branchial cleft cyst Second branchial cleft fistula |
| Number of Symptoms | 3 |
| OrphanetNr: | 141022 |
| OMIM Id: |
113600
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| ICD-10: |
Q18.0 |
| 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: |
Cysts and fistulae of the face and oral cavity
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000464) | Abnormality of the neck | 31 / 7739 | ||||
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(OMIM) | Cysts, sinuses or fistulas | 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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