familial adenomatous polyposis 3
MONDO:0014630Mondo
Findings
No curated finding names familial adenomatous polyposis 3 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
- Adult onset
HPO, annotations 2026-09-02
Features
16 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
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Endometrial carcinomaHPOHP:0012114
- 2 of 3 reported patients · Female
- Frequent (30% to 79% of cases)
- Bladder neoplasmHPOHP:0009725
- Frequent (30% to 79% of cases)
- Breast carcinomaHPOHP:0003002
- 1 of 3 reported patients · Female
- Frequent (30% to 79% of cases)
- Colon cancerHPOHP:0003003
- 4 of 7 reported patients
- Frequent (30% to 79% of cases)
- MeningiomaHPOHP:0002858
- 1 of 7 reported patients
- 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)
- Basal cell carcinomaHPOHP:0002671
- 2 of 7 reported patients
- Occasional (5% to 29% of cases)
- Duodenal adenocarcinomaHPOHP:0006771
- 1 of 7 reported patients
- Occasional (5% to 29% of cases)
- Non-Hodgkin lymphomaHPOHP:0012539
- Occasional (5% to 29% of cases)
- Ovarian cystHPOHP:0000138
- Occasional (5% to 29% of cases)
Show the remaining 4
- Pancreatic adenocarcinomaHPOHP:0006725
- 1 of 7 reported patients
- Occasional (5% to 29% of cases)
- Seborrheic keratosisHPOHP:0031287
- Occasional (5% to 29% of cases)
- Squamous cell carcinomaHPOHP:0002860
- Occasional (5% to 29% of cases)
- Prostate cancerHPOHP:0012125
- 1 of 4 reported patients · Male
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.
- NTHL1HGNC:8028
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: familial adenomatous polyposis 3
- Also called
- familial adenomatous polyposis type 3FAP3NTHL1-related AFAPNTHL1-related attenuated familial adenomatous polyposisNTHL1-related attenuated FAP