Congenital bronchobiliary fistula
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 2 |
| OrphanetNr: | 2040 |
| OMIM Id: |
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| ICD-10: |
Q32.4 |
| 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: | 23 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic respiratory or mediastinal malformation
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare surgical thoracic disease Nonsyndromic visceral malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare biliary tract disease -Rare hepatic disease Respiratory malformation -Rare respiratory disease |
Symptom Information:
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(HPO:0001080) | Biliary tract abnormality | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0002777) | Tracheal stenosis | Very frequent [Orphanet] | 35 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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