High altitude pulmonary edema
disease diseaseOn this page
Summary
High altitude pulmonary edema (MONDO:0031257) is a disease and 11 clinical trials. Top therapeutic interventions include sildenafil, nifedipine, and acetazolamide. A subtype of pulmonary edema — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 21
- Clinical trials: 11
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
21 HPO clinical features (Orphanet curated; top 21 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0012418 | Hypoxemia | Obligate (100%) |
| HP:0100598 | Pulmonary edema | Obligate (100%) |
| HP:0002094 | Dyspnea | Very frequent (80-99%) |
| HP:0000961 | Cyanosis | Frequent (30-79%) |
| HP:0001649 | Tachycardia | Frequent (30-79%) |
| HP:0001974 | Leukocytosis | Frequent (30-79%) |
| HP:0002017 | Nausea and vomiting | Frequent (30-79%) |
| HP:0002039 | Anorexia | Frequent (30-79%) |
| HP:0002315 | Headache | Frequent (30-79%) |
| HP:0002360 | Sleep abnormality | Frequent (30-79%) |
| HP:0003546 | Exercise intolerance | Frequent (30-79%) |
| HP:0012735 | Cough | Frequent (30-79%) |
| HP:0030830 | Crackles | Frequent (30-79%) |
| HP:0031457 | Pulmonary opacity | Frequent (30-79%) |
| HP:0001945 | Fever | Occasional (5-29%) |
| HP:0002321 | Vertigo | Occasional (5-29%) |
| HP:0002789 | Tachypnea | Occasional (5-29%) |
| HP:0012764 | Orthopnea | Occasional (5-29%) |
| HP:0032016 | Abnormal sputum | Occasional (5-29%) |
| HP:0100749 | Chest pain | Occasional (5-29%) |
| HP:0002105 | Hemoptysis | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | high altitude pulmonary edema |
| Mondo ID | MONDO:0031257 |
| Orphanet | 330012 |
| UMLS | C0340100 |
| MedGen | 137935 |
| GARD | 0021502 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of pulmonary edema. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › acute disease › acute respiratory failure › pulmonary edema › high altitude pulmonary edema
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 11.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 8 |
| PHASE4 | 2 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00627965 | PHASE4 | COMPLETED | Randomized, Controlled Trial of Regular Sildenafil Citrate in the Prevention of Altitude Illness |
| NCT03490916 | PHASE4 | TERMINATED | Effect of Acetazolamide on Subclinical High-Altitude Pulmonary Edema Detected by Lung Ultrasonography |
| NCT00274430 | PHASE1/PHASE2 | COMPLETED | Prevention of High Altitude Pulmonary Edema |
| NCT07536477 | Not specified | RECRUITING | High-flow Nasal Cannula Oxygen Therapy Versus Conventional Oxygen Therapy in High-altitude Pulmonary Edema |
| NCT00559442 | Not specified | COMPLETED | Susceptibility to High Altitude Pulmonary Edema in Subjects With Increased Hypoxic Pulmonary Vasoconstriction |
| NCT01565603 | Not specified | UNKNOWN | Sleep and Cerebral Responses to High Altitude |
| NCT01698619 | Not specified | UNKNOWN | Hemodynamic Changes in Altitude Adaptation |
| NCT04186598 | Not specified | COMPLETED | Evaluating the Utility of Continuous Positive Airway Pressure in the Treatment of High Altitude Pulmonary Edema |
| NCT04288219 | Not specified | UNKNOWN | Non-Invasive Positive Pressure Ventilation Management of High Altitude Pulmonary Edema |
| NCT04710953 | Not specified | UNKNOWN | Comparison of CPAP and Gamow Bag Ventilation to Treat HAPE |
| NCT06039475 | Not specified | COMPLETED | Risk Factors Associated With High Altitude Sickness: A Case-Control Study |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SILDENAFIL | 4 | 3 |
| NIFEDIPINE | 4 | 2 |
| ACETAZOLAMIDE | 4 | 1 |
| CHEMBL4792718 | 0 | 1 |
| CHEMBL5439651 | 0 | 1 |
Related Atlas pages
- Drugs: Sildenafil, Nifedipine, Acetazolamide