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high altitude pulmonary edema - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

high altitude pulmonary edema

MONDO:0031257

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Overview

A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.

TreatmentsNo approved treatments · 1 in pipeline

Clinical Trials10 registered · 1 recruiting

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: Low blood oxygen levels (hypoxemia) and Pulmonary edema; and very common findings: Dyspnea. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Low blood oxygen levels (hypoxemia), Pulmonary edema, Dyspnea

Diagnosis

Biomarker and diagnostic research for high altitude pulmonary edema has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for high altitude pulmonary edema. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for high altitude pulmonary edema, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for high altitude pulmonary edema. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 11 common features.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

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.

10 clinical trials registered, 1 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and biologic therapy. Pipeline includes 1 PHASE4, 5 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06152744](https://clinicaltrials.gov/study/NCT06152744)

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 11:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:330012

GARD

Genetic and Rare Diseases Info Center

GARD:21502

Questions for Your Care Team

→Are any of the 10 active clinical trials a good fit for my situation?
→What is the current development status of synthetic peptide; cyclo-Cys-Gly-Gln-Arg-Glu-Thr-Pro-Glu-Gly-Ala-Glu-ALA-Lys-Pro-Trp-Tyr-Cys, and when might it become available?
→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

Research Type	Count	% of Total
Laboratory research	26	25%
Research summaries	25	25%
Patient case studies	14	14%
New treatment approaches	14	14%
Testing and diagnosis research	11	11%
Disease patterns and progression	6	6%
Other research	3	3%
Clinical study results	3	3%

Kisho

high altitude pulmonary edema

Overview

Clinical Presentation

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

high altitude pulmonary edema

Overview

Clinical Presentation

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications