Pulmonary arterial hypertension associated with congenital heart disease: genes and variants
Pulmonary arterial hypertension associated with congenital heart disease is linked to 1 analyzed protein (BMPR2). 2 DNA variants are known to cause it; 3 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Pulmonary arterial hypertension associated with congenital heart disease
BMPR2: Bone morphogenetic protein receptor type-2
It initiates BMP signaling in vascular cells and helps maintain normal pulmonary-artery structure and endothelial function. Heterozygous loss-of-function variants are the most common known genetic cause of heritable pulmonary arterial hypertension.
2 disease-causing and 2 uncertain variants in BMPR2 are linked to Pulmonary arterial hypertension associated with congenital heart disease.
Weakly linked (only a few uncertain records): BMPR1A.
Known disease-causing variants in Pulmonary arterial hypertension associated with congenital heart disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BMPR2 T102A | 102 | Extracellular | Disease-causing |
| BMPR2 M186V | 186 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Pulmonary hypertension, primary, 1 is also caused by BMPR2 variants; they fall mostly in different places as the Pulmonary arterial hypertension associated with congenital heart disease variants (38 disease-causing).
- Pulmonary arterial hypertension is also caused by BMPR2 variants; they fall mostly in different places as the Pulmonary arterial hypertension associated with congenital heart disease variants (29 disease-causing).
- Primary pulmonary hypertension is also caused by BMPR2 variants; they fall mostly in different places as the Pulmonary arterial hypertension associated with congenital heart disease variants (13 disease-causing).
Diseases related to Pulmonary arterial hypertension associated with congenital heart disease
- Pulmonary hypertension, primary, 1, also linked to BMPR2
- Pulmonary arterial hypertension, also linked to BMPR2
- Primary pulmonary hypertension, also linked to BMPR2
Frequently asked questions
Which genes are linked to Pulmonary arterial hypertension associated with congenital heart disease?
In CATVariant, Pulmonary arterial hypertension associated with congenital heart disease is linked to 1 analyzed protein: BMPR2 (Bone morphogenetic protein receptor type-2).
How many genetic variants are linked to Pulmonary arterial hypertension associated with congenital heart disease?
6 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pulmonary arterial hypertension associated with congenital heart disease 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.
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