ANAL SPHINCTER DYSPLASIA
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ASDP |
| Number of Symptoms | 8 |
| OrphanetNr: | |
| OMIM Id: |
105563
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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: | No data available. |
Symptom Information:
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(HPO:0012450) | Chronic constipation | 10 / 7739 | ||||
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(HPO:0002607) | Bowel incontinence | 33 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0040183) | Encopresis | 1 / 7739 | ||||
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(OMIM) | Straining at defecation | 1 / 7739 | ||||
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(OMIM) | Congenital anal canal malformation | 1 / 7739 | ||||
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(OMIM) | Absent (type I) or incomplete (type II) fixation of the sphincter complex to the coccyx on CT scan | 1 / 7739 | ||||
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(OMIM) | Chronic paradoxical diarrhea | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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