familial adenomatous polyposis 4
MONDO:0044300Mondo
Findings
No curated finding names familial adenomatous polyposis 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adenomatous colonic polyposisHPOHP:0005227
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Colorectal polyposisHPOHP:0200063
- Very frequent (80% to 99% of cases)
- Juvenile gastrointestinal polyposisHPOHP:0004784
- Very frequent (80% to 99% of cases)
- Breast intraductal papillomaHPOHP:6000102
- 2 of 3 reported patients
- AstrocytomaHPOHP:0009592
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- Colon cancerHPOHP:0003003
- Frequent (30% to 79% of cases)
- Multiple gastric polypsHPOHP:0004394
- Frequent (30% to 79% of cases)
- Neoplasm of the rectumHPOHP:0100743
- Frequent (30% to 79% of cases)
- Neoplasm of the skinHPOHP:0008069
- Frequent (30% to 79% of cases)
- PapillomaHPOHP:0012740
- Frequent (30% to 79% of cases)
- Stomach cancerHPOHP:0012126
- Frequent (30% to 79% of cases)
- Thyroid adenomaHPOHP:0000854
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 6
- Uterine leiomyomaHPOHP:0000131
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
- Ovarian dermoid cystHPOHP:0025274
- Occasional (5% to 29% of cases)
- Renal cystHPOHP:0000107
- 1 of 4 reported patients
- Occasional (5% to 29% of cases)
- Duodenal polyposisHPOHP:0004783
- 1 of 4 reported patients
- Gastric adenocarcinomaHPOHP:0033770
- 1 of 4 reported patients
- Ovarian cystHPOHP:0000138
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MSH3HGNC:7326
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: familial adenomatous polyposis 4
- Also called
- familial adenomatous polyposis type 4FAP4MSH3-related AFAPMSH3-related attenuated familial adenomatous polyposisMSH3-related attenuated familial polyposis coliMSH3-related attenuated FAP