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ORPHA:466650

Exercise-induced malignant hyperthermia

low confidenceDisorder

Also known as: Exertional heat stroke

Publications

1,154

Trials

2

Interventional, condition-specific

Researchers

889

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,154 matched papers (813 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Abnormality of the nervous system; Malignant hyperthermia; Nausea) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

41

Associated phenotypes · MONDO:0018752

  • Abnormality of the nervous system
  • Malignant hyperthermia
  • Nausea
  • Headache
  • Vertigo

Showing 5 of 41 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0018752

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,154

1,154 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,154 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

813 in the last 10 years · low confidence

Phrase hits: 1,154 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

889

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    DeGroot DW12 papers · 2025

    The Army Heat Center, Fort Benning, GA, USA.

    Papers in Europe PMC
  2. 02
    Song Q11 papers · 2026

    Postgraduate School, Medical School of Chinese PLA, Beijing 100853, China; Department of Critical Care Medicine, First Medical Center, Chinese PLA General Hospital, Beijing 100853, China. Electronic address: songqing3010301@sina.com.

    Papers in Europe PMC
  3. 03
    Charkoudian N10 papers · 2026

    Thermal and Mountain Medicine Department, US Army Research Institute of Environmental Medicine, Natick, MA, United States.

    Papers in Europe PMC
  4. 04
    Casa DJ9 papers · 2025

    Korey Stringer Institute, University of Connecticut, Storrs.

    Papers in Europe PMC
  5. 05
    Giersch GEW9 papers · 2026

    Thermal and Mountain Medicine Division, U.S. Army Research Institute of Environmental Medicine, Natick, MA, USA.

    Papers in Europe PMC
  6. 06
    Chen J8 papers · 2026

    Department of Pediatrics, 900th Hospital of PLA Joint Logistic Support Force, Fuzhou, China.

    Papers in Europe PMC
  7. 07
    Liu J8 papers · 2026

    Department of Otolaryngology Head & Neck Surgery/Deep Underground Space Medical Center, West China Hospital, Sichuan University, No. 37 Guoxuexiang, Chengdu, China; State Key Laboratory of Intelligent Construction and Healthy Operation and Maintenance of Deep Underground Engineering, Sichuan University, No.24, south Section 1, 1st ring road, Chengdu, China. Electronic address: 729122921@qq.com.

    Papers in Europe PMC
  8. 08
    O'Connor FG8 papers · 2025

    Department of Military and Emergency Medicine, Uniformed Services University, Bethesda, MD, USA.

    Papers in Europe PMC
  9. 09
    Wang J8 papers · 2025

    Department of Critical Care Medicine, Xuanwu Hospital of Capital Medical University, Beijing China.

    Papers in Europe PMC
  10. 10
    Zhang Y8 papers · 2026

    Department of Emergency, Changhai Hospital, Naval Medical University, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Exercise-induced malignant hyperthermia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Exercise-induced malignant hyperthermia" OR "Exertional heat stroke"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Exercise-induced malignant hyperthermia" OR "Exertional heat stroke"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1154) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T16:57:58.188Z