Attenuated familial adenomatous polyposis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AFAP Attenuated familial polyposis coli Attenuated FAP |
| Number of Symptoms | 26 |
| OrphanetNr: | 220460 |
| OMIM Id: |
175100
608456 |
| ICD-10: |
D12.6 |
| UMLs: |
C2674616 |
| MeSH: |
C538265 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic digestive tract tumor
-Rare genetic disease 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:0000670) | Carious teeth | occasional [HPO] | 145 / 7739 | |||
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(HPO:0011069) | Increased number of teeth | occasional [HPO] | 39 / 7739 | |||
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(HPO:0011068) | Odontoma | 6 / 7739 | ||||
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(HPO:0000706) | Unerupted tooth | occasional [HPO] | 10 / 7739 | |||
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(HPO:0007649) | Congenital hypertrophy of retinal pigment epithelium | occasional [HPO] | 5 / 7739 | |||
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(HPO:0002885) | Medulloblastoma | 1% [HPO] | 20 / 7739 | |||
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(HPO:0009592) | Astrocytoma | 15 / 7739 | ||||
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(HPO:0010619) | Fibroadenoma of the breast | occasional [HPO] | 4 / 7739 | |||
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(HPO:0002895) | Papillary thyroid carcinoma | 1-2% [HPO] | 10 / 7739 | |||
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(HPO:0008256) | Adrenocortical adenoma | 13% [HPO] | 3 / 7739 | |||
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(HPO:0006744) | Adrenocortical carcinoma | 10 / 7739 | ||||
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(HPO:0006722) | Small intestine carcinoid | 5 / 7739 | ||||
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(HPO:0100246) | Osteoma | occasional [HPO] | 5 / 7739 | |||
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(HPO:0004394) | Multiple gastric polyps | frequent [HPO] | 9 / 7739 | |||
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(HPO:0006771) | Duodenal adenocarcinoma | 4-12% [HPO] | 3 / 7739 | |||
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(HPO:0005227) | Adenomatous colonic polyposis | hallmark [HPO] | 9 / 7739 | |||
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(HPO:0003003) | Colon cancer | frequent [HPO] | 20 / 7739 | |||
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(HPO:0004783) | Duodenal polyposis | 50%-90% [HPO] | 5 / 7739 | |||
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(HPO:0100245) | Desmoid tumors | 10% [HPO] | 6 / 7739 | |||
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(HPO:0002884) | Hepatoblastoma | 1.6% [HPO] | 11 / 7739 | |||
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(HPO:0010562) | Keloids | 11 / 7739 | ||||
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(HPO:0000953) | Hyperpigmentation of the skin | 75 / 7739 | ||||
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(HPO:0200040) | Epidermoid cyst | occasional [HPO] | 35 / 7739 | |||
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(HPO:0001012) | Multiple lipomas | 43 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 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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