pulmonary hypertension, primary, 4
Findings
No curated finding names pulmonary hypertension, primary, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014136), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
8 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.
- Pulmonary arterial hypertension with lack of acute response to NO challengeHPOHP:0033424
- 5 of 5 reported patients
- Elevated pulmonary artery pressureHPOHP:0004890
- 7 of 9 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 7 of 9 reported patients
- Complete right bundle branch blockHPOHP:0011712
- 2 of 9 reported patients
- Atrial flutterHPOHP:0004749
- 1 of 9 reported patients
- First degree atrioventricular blockHPOHP:0011705
- 1 of 9 reported patients
- Thromboembolism
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.
- KCNK3HGNC:6278
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: pulmonary hypertension, primary, 4
- Also called
- KCNK3 primary pulmonary hypertensionprimary pulmonary hypertension caused by mutation in KCNK3pulmonary hypertension, primary, type 4