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attenuated familial adenomatous polyposis (AAPC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

attenuated familial adenomatous polyposis

MONDO:0016362

Also known as:AAPCAFAPHFAS

Find Clinical TrialsTrials

Overview

Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Colorectal polyposis; and common findings: Colon cancer, Multiple gastric polyps, Duodenal polyposis, and Adenomatous colonic polyposis and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	2	Large intestinal polyposis, Gastrointestinal carcinoma

Diagnosis

Biomarker and diagnostic research for attenuated familial adenomatous polyposis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 7 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

13 publications have been identified in PubMed for attenuated familial adenomatous polyposis. Research spans Case Report / Case Series (23%), Epidemiology / Natural History (23%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Patient case studies	3	23%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:220460

GARD

Genetic and Rare Diseases Info Center

GARD:8532

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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attenuated familial adenomatous polyposis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

attenuated familial adenomatous polyposis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications