Polyposis syndrome, hereditary mixed, 2: genes and variants
Polyposis syndrome, hereditary mixed, 2 is linked to 1 analyzed protein (BMPR1A). 2 DNA variants are known to cause it; 106 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Polyposis syndrome, hereditary mixed, 1
Genes linked to Polyposis syndrome, hereditary mixed, 2
BMPR1A: Bone morphogenetic protein receptor type-1A
It transduces BMP signals that regulate epithelial growth, differentiation, and tissue patterning through SMAD proteins and other pathways. Germline loss-of-function variants cause juvenile polyposis syndrome and can substantially increase gastrointestinal cancer risk.
2 disease-causing and 105 uncertain variants in BMPR1A are linked to Polyposis syndrome, hereditary mixed, 2.
Weakly linked (only a few uncertain records): CTNNA1.
Known disease-causing variants in Polyposis syndrome, hereditary mixed, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BMPR1A C124R | 124 | Extracellular | Disease-causing (★★) |
| BMPR1A G23R | 23 | Disease-causing |
Same protein, different disease
- Juvenile polyposis syndrome is also caused by BMPR1A variants; they fall mostly in different places as the Polyposis syndrome, hereditary mixed, 2 variants (8 disease-causing).
Diseases related to Polyposis syndrome, hereditary mixed, 2
- Pulmonary arterial hypertension, also linked to BMPR1A
- Juvenile polyposis syndrome, also linked to BMPR1A
- Generalized juvenile polyposis/juvenile polyposis coli, also linked to BMPR1A
Frequently asked questions
Which genes are linked to Polyposis syndrome, hereditary mixed, 2?
In CATVariant, Polyposis syndrome, hereditary mixed, 2 is linked to 1 analyzed protein: BMPR1A (Bone morphogenetic protein receptor type-1A).
How many genetic variants are linked to Polyposis syndrome, hereditary mixed, 2?
108 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 106 are of uncertain significance or have conflicting reports.
Which uncertain variants in Polyposis syndrome, hereditary mixed, 2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center