polyposis syndrome, hereditary mixed, 2
Findings
No curated finding names polyposis syndrome, hereditary mixed, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.
Definition from the Mondo Disease Ontology (MONDO:0012405), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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
- Colon cancerHPOHP:0003003
- Hyperplastic colonic polyposisHPOHP:0012183
- Juvenile colonic polyposisHPOHP:0012198
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.
- BMPR1AHGNC:1076
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: polyposis syndrome, hereditary mixed, 2
- Also called
- BMPR1A hereditary mixed polyposis syndromehereditary mixed polyposis syndrome caused by mutation in BMPR1Apolyposis syndrome, hereditary mixed, type 2