Complete atrioventricular canal
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CAVC Complete atrioventricular septal defect Common atrioventricular canal |
| Number of Symptoms | 1 |
| OrphanetNr: | 1329 |
| OMIM Id: |
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| ICD-10: |
Q21.2 |
| 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: | 20 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Atrioventricular canal defect
-Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0004760) | Congenital septal defect | Very frequent [Orphanet] | 69 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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