Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia: genes and variants
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia is linked to 1 analyzed protein (ACVRL1). 6 DNA variants are known to cause it; 0 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 related to hereditary hemorrhagic telangiectasia
ACVRL1: Activin receptor type-1-like
It mediates BMP9 and BMP10 signaling in vascular endothelial cells and helps maintain normal vessel maturation and quiescence. Heterozygous loss-of-function variants cause hereditary hemorrhagic telangiectasia type 2, with telangiectasias and arteriovenous malformations.
6 disease-causing and 0 uncertain variants in ACVRL1 are linked to Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia.
Known disease-causing variants in Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACVRL1 V198E | 198 | GS | Disease-causing |
| ACVRL1 Q201R | 201 | GS | Disease-causing |
| ACVRL1 D263G | 263 | Protein kinase | Disease-causing |
| ACVRL1 W399L | 399 | Protein kinase | Disease-causing |
| ACVRL1 D427V | 427 | Protein kinase | Disease-causing |
| ACVRL1 R218P | 218 | Protein kinase | Disease-causing |
Same protein, different disease
- Telangiectasia, hereditary hemorrhagic, type 2 is also caused by ACVRL1 variants; they fall mostly in different places as the Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia variants (178 disease-causing).
- Hereditary hemorrhagic telangiectasia is also caused by ACVRL1 variants; they fall mostly in different places as the Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia variants (4 disease-causing).
- Pulmonary hypertension, primary, 1 is also caused by ACVRL1 variants; they fall mostly in different places as the Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia variants (3 disease-causing).
Diseases related to Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
- Hereditary factor VIII deficiency disease, also linked to ACVRL1
- Telangiectasia, hereditary hemorrhagic, type 2, also linked to ACVRL1
- Pulmonary hypertension, primary, 1, also linked to ACVRL1
- Pulmonary arterial hypertension, also linked to ACVRL1
- Hereditary hemorrhagic telangiectasia, also linked to ACVRL1
Frequently asked questions
Which genes are linked to Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia?
In CATVariant, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia is linked to 1 analyzed protein: ACVRL1 (Activin receptor type-1-like).
How many genetic variants are linked to Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia?
6 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 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