Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

pulmonary hypertension, primary, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pulmonary hypertension, primary, 2

MONDO:0014134

Also known as:SMAD9 primary pulmonary hypertensionprimary pulmonary hypertension caused by mutation in SMAD9pulmonary hypertension, primary, type 2

Find Clinical TrialsTrials

Overview

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.

GeneticsAutosomal dominant · SMAD9 (chr 13)

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased pulmonary vascular resistance; and common findings: High blood pressure in lung arteries (pulmonary arterial hypertension) and Abnormally loud pulmonic component of the second heart sound.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	High blood pressure in lung arteries (pulmonary arterial hypertension), Abnormally loud pulmonic component of the second heart sound

Genetic Landscape

SMAD9 function has not been fully characterized.

Pulmonary hypertension, primary, 2 is associated with mutations in the SMAD9 gene on chromosome 13.

Diagnosis

Genetic testing for SMAD9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pulmonary hypertension, primary, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

275 publications have been identified in PubMed for pulmonary hypertension, primary, 2. Kisho has analyzed 169 by research type. Research spans Epidemiology / Natural History (25%), Clinical Trial Publication (24%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	43

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615342

GARD

Genetic and Rare Diseases Info Center

GARD:18394

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for SMAD9, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

pulmonary hypertension, primary, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pulmonary hypertension, primary, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications