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familial adenomatous polyposis 4 (FAP4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial adenomatous polyposis 4

MONDO:0044300

Also known as:FAP4MSH3-related AFAPMSH3-related attenuated FAP

Overview

An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.

GeneticsAutosomal recessive · MSH3 (chr 5)

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: Adenomatous colonic polyposis, Juvenile gastrointestinal polyposis, and Colorectal polyposis; and common findings: Uterine leiomyoma, Astrocytoma, Breast intraductal papilloma, and Thyroid adenoma and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Renal cyst

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MSH3 encodes mutS homolog 3 (1,137 aa). Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. Highest expression in Cells EBV-transformed lymphocytes (14.4 TPM) and Cells Cultured fibroblasts (13.8 TPM).

Familial adenomatous polyposis 4 is caused by mutations in the MSH3 gene on chromosome 5.

The MSH3 protein participates in Defective Mismatch Repair Associated With MSH3, Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), and Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathways.

MSH3 is classified as a druggable target (Clinically Actionable and Dna Repair categories) with score 1.4.

Diagnosis

Genetic testing for MSH3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial adenomatous polyposis 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

No clinical trials have been registered for familial adenomatous polyposis 4.

188 publications have been identified in PubMed for familial adenomatous polyposis 4. Research spans Basic Science / Preclinical (24%), Epidemiology / Natural History (20%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	43	24%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 2:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617100

Orphanet

European rare disease database

Orphanet:480536

GARD

Genetic and Rare Diseases Info Center

GARD:17868

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Kisho

familial adenomatous polyposis 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Laparoscopic total colectomy in a patient with familial adenomatous polyposis and congenital intestinal nonrotation: a case report.

Diffuse Symptomatic Familial Gastric Polyposis Requiring Total Gastrectomy: A Complex Case Report.

Patient advocate offers Recursion a powerful reason to keep going in rare disease

Pouch cancer in familial adenomatous polyposis. Incidence, risk factors and literature review: a propos of three rare cases.

familial adenomatous polyposis 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Laparoscopic total colectomy in a patient with familial adenomatous polyposis and congenital intestinal nonrotation: a case report.

Diffuse Symptomatic Familial Gastric Polyposis Requiring Total Gastrectomy: A Complex Case Report.

Patient advocate offers Recursion a powerful reason to keep going in rare disease

Pouch cancer in familial adenomatous polyposis. Incidence, risk factors and literature review: a propos of three rare cases.