Isolated anorectal malformation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 3 |
| OrphanetNr: | 557 |
| OMIM Id: |
107100
207500 301800 |
| ICD-10: |
Q42.0 Q42.1 Q42.2 Q42.3 |
| 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: | 24 of 100 000 [Orphanet] |
| Inheritance: |
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| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Anorectal malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000143) | Rectovaginal fistula | 18 / 7739 | ||||
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(HPO:0002023) | Anal atresia | 135 / 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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