Hereditary mixed polyposis syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 7 |
| OrphanetNr: | 157794 |
| OMIM Id: |
601228
610069 |
| ICD-10: |
D12.6 |
| 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 [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic intestinal polyposis
-Rare genetic disease Inherited cancer-predisposing syndrome -Rare genetic disease -Rare oncologic disease Intestinal polyposis syndrome -Rare gastroenterologic disease -Rare oncologic disease |
Symptom Information:
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(HPO:0100273) | Neoplasm of the colon | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0001438) | Abnormality of the abdomen | 28 / 7739 | ||||
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(HPO:0200008) | Intestinal polyposis | Very frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0004378) | Abnormality of the anus | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0100743) | Neoplasm of the rectum | Frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0002239) | Gastrointestinal hemorrhage | Very frequent [Orphanet] | 97 / 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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