Altitude sickness

Summary

Altitude sickness (MONDO:0006625) is a disease and 15 clinical trials. Top therapeutic interventions include acetazolamide, methazolamide, and riociguat. A subtype of respiratory system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 15

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	altitude sickness
Mondo ID	MONDO:0006625
EFO	EFO:1000782
MeSH	D000532
ICD-11	987050905
UMLS	C0002351
MedGen	229
Is cancer (heuristic)	no

Disease family

This is a subtype of respiratory system disorder. 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 › disease by body system or component › respiratory system disorder › altitude sickness

Related subtypes (58): lower respiratory tract disorder, respiratory system cancer, respiratory system benign neoplasm, allergic respiratory disease, paranasal sinus disorder, upper respiratory tract disorder, pertussis, severe acute respiratory syndrome, sleep apnea syndrome, diaphragm disorder, pulmonary tuberculosis, perinatal asphyxia, pulmonary nodular lymphoid hyperplasia, tracheobronchopathia osteochondroplastica, Williams-Campbell syndrome, cystic fibrosis, growth delay-hydrocephaly-lung hypoplasia syndrome, laryngo-onycho-cutaneous syndrome, congenital pulmonary lymphangiectasia, familial primary pulmonary hypoplasia, Mounier-Kuhn syndrome, Young syndrome, lung agenesis-heart defect-thumb anomalies syndrome, sudden infant death-dysgenesis of the testes syndrome, alpha 1-antitrypsin deficiency, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, autoimmune interstitial lung disease-arthritis syndrome, mucopolysaccharidosis-plus syndrome, congenital bronchobiliary fistula, bronchogenic cyst, primary ciliary dyskinesia, congenital pulmonary airway malformation, transient hyperammonemia of the newborn, congenital pulmonary sequestration, Siegler-Brewer-Carey syndrome, tracheal agenesis, 16q24.1 microdeletion syndrome, staphylococcal necrotizing pneumonia, pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, plastic bronchitis, recurrent respiratory papillomatosis, IgG4-related mediastinitis, bronchopulmonary dysplasia, infantile apnea, diffuse alveolar hemorrhage, respiratory or thoracic malformation, pulmonary agenesis, eosinophilic granuloma, disorder of pharynx, respiratory tract neoplasm, pulmonary alveolar proteinosis with hypogammaglobulinemia, respiratory tract infectious disorder, Middle East respiratory syndrome, reactive airway disease, acinar dysplasia, pulmonary hypoplasia, isolated left bronchial isomerism, bronchiectasis and nasal polyposis

Subtypes (2): acute mountain sickness, chronic mountain sickness

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

Drugs indicated for this disease

1 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Acetazolamide	Approved (phase 4)
Budesonide	Phase 3 (in late-stage trials)
Ibuprofen	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ambrisentan.

Clinical trials & evidence

Clinical trials

Clinical trials: 15.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	9
PHASE3	4
PHASE4	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02024386	PHASE4	COMPLETED	Efficacy Study of Riociguat and Its Effects on Exercise Performance and Pulmonary Artery Pressure at High Altitude
NCT02760121	PHASE4	COMPLETED	AZ, MZ, and the Pulmonary System Response to Hypoxia
NCT01171794	PHASE3	COMPLETED	Prevention of Altitude Illness With Non-steroidal Anti-inflammatory Study (PAINS)
NCT02941510	PHASE3	WITHDRAWN	Inhaled Budesonide for Altitude Illness Prevention
NCT04913389	PHASE3	UNKNOWN	Acetazolamide to Prevent Impending Altitude-illness in Patients With COPD
NCT04915365	PHASE3	UNKNOWN	Effect of Acetazolamide on Right Heart Function at Rest in Lowlanders With COPD Traveling to High Altitude
NCT07608887	Not specified	RECRUITING	Effect of Hot Spring Therapy on Autonomic Nervous System and Exercise Performance During Altitude Training
NCT01465971	Not specified	COMPLETED	Monitoring of the Cerebral Tissue Oxygenation and Perfusion in the Adapting Climber During Sleep in High Altitude
NCT02780908	Not specified	UNKNOWN	Cardio-respiratory Responses During Hypoxic Exercise in Individuals Born Prematurely
NCT02871063	Not specified	COMPLETED	Effect of Altitude on the Evolution of Acute Respiratory Distress Syndrome
NCT02972411	Not specified	UNKNOWN	Controlled Hyperventilation as Prophylaxis for Acute Mountain Sickness
NCT04075565	Not specified	COMPLETED	The Psychophysiological Effect of Simulated and Terrestrial Altitude
NCT04751292	Not specified	COMPLETED	HIGH Altitude CArdiovascular REsearch Latin America Population Study
NCT07018817	Not specified	COMPLETED	Hypoxia Adaptation Promotes Cerebral Functional Connectivity With Neuromuscular Efficiency Decrement
NCT07056751	Not specified	COMPLETED	The Effects of Artificial Air Negative Ions on High-Altitude Acclimatization, Serum HIF1, and PWC170 Index

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ACETAZOLAMIDE	4	4
METHAZOLAMIDE	4	1
RIOCIGUAT	4	1