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ORPHA:423

Malignant hyperthermia of anesthesia

low confidenceDisorder

Also known as: Hyperthermia of anesthesia

Publications

22,182

Trials

1

Interventional, condition-specific

Researchers

1,114

Distinct authors in sample

Gene link

ASPH

Moderate

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

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.

Additional Mondo synonyms (8)

anaesthesia related hyperthermia · hyperthermia of anaesthesia · hyperthermia of anesthesia · malignant hyperpyrexia · malignant hyperpyrexia due to anaesthesia · malignant hyperthermia · malignant hyperthermia of anesthesia · malignant hyperthermia syndrome

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Moderate — ASPH

  2. LiteraturePresent

    22,182 matched papers (11,162 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Malignant hyperthermia; Metabolic acidosis; Fever) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. Dantrolene sodium Source

  6. Interventional trialPresent

    1 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?

Probably — there is moderate evidence for ASPH.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0018493

  • Malignant hyperthermia
  • Metabolic acidosis
  • Fever
  • Hyperphosphatemia
  • Cardiomyocyte mitochondrial proliferation

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA Dantrolene sodiumTreatment of malignant hyperthermia · 19/11/2014 · PositiveEMA designation
  • EMA dantrolene sodium, hemiheptahydrateTreatment of malignant hyperthermia · 20/05/2021 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

10 associated chemicals · 11 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Dantrolene · therapeutic
  • Antipsychotic Agents · marker/mechanism
  • Calcium · marker/mechanism
  • cyamemazine · marker/mechanism
  • Halothane · marker/mechanism
  • Isoflurane · marker/mechanism
  • Methoxyflurane · marker/mechanism
  • Morphine · marker/mechanism
  • Succinylcholine · marker/mechanism
  • Sulpiride · marker/mechanism

Pathways: Calcium signaling pathway; Apelin signaling pathway; Circadian entrainment; Long-term depression; Oxytocin signaling pathway; Stimuli-sensing channels; Transmembrane transport of small molecules; Muscle contraction

MyDisease.info · MONDO:0018493

Literature

Is anyone studying this?

22,182

22,182 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

22,182 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).

11,162 in the last 10 years · low confidence

Phrase hits: 18,553 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,114

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
    Girard T4 papers · 2026

    Clinic for Anaesthesia, Intermediate Cre, Prehosptial Emergency Medicine and Pain Therapy, University Hospital Basel, University of Basel, 4031 Basel, Switzerland.

    Papers in Europe PMC
  2. 02
    Abeywickrema M3 papers · 2026
    Papers in Europe PMC
  3. 03
    Balaet M3 papers · 2026
    Papers in Europe PMC
  4. 04
    Clayden B3 papers · 2026
    Papers in Europe PMC
  5. 05
    Furukawa S3 papers · 2026

    Health Services Center, Ehime University, Matsuyama, Japan, furukawa.shinya.mf@ehime-u.ac.jp.

    Papers in Europe PMC
  6. 06
    Hanayama M3 papers · 2026

    Department of Gastroenterology, Matsuyama Shimin Hospital, Matsuyama, Japan.

    Papers in Europe PMC
  7. 07
    Hiasa Y3 papers · 2026

    Department of Gastroenterology and Metabology, Ehime University Graduate School of Medicine, Toon, Japan.

    Papers in Europe PMC
  8. 08
    Hopkins PM3 papers · 2026

    Malignant Hyperthermia Unit, St. James's University Hospital, Leeds, UK.

    Papers in Europe PMC
  9. 09
    Ikeda Y3 papers · 2026

    Endoscopy Center, Ehime University Hospital, Toon, Japan.

    Papers in Europe PMC
  10. 10
    Jiang J3 papers · 2026

    Faculty of Humanities and Social Science, City University of Macau, Macau, Guangdong, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

Observational and natural-history studies

9 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

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 (3)

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 Malignant hyperthermia of anesthesia — 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.

("Malignant hyperthermia of anesthesia" OR "Malignant hyperthermia of the anesthesia" OR "Hyperthermia of anesthesia" OR "Hyperthermia of the anesthesia" OR "anaesthesia related hyperthermia" OR "hyperthermia of anaesthesia" OR "hyperthermia of the anaesthesia" OR "malignant hyperpyrexia" OR "malignant hyperpyrexia due to anaesthesia" OR "malignant hyperthermia" OR "malignant hyperthermia syndrome") OR ("ASPH" OR "ASPH syndrome" OR "ASPH-related")

Run this search on Europe PMC

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

"Malignant hyperthermia of anesthesia" OR "Malignant hyperthermia of the anesthesia" OR "Hyperthermia of anesthesia" OR "Hyperthermia of the anesthesia" OR "anaesthesia related hyperthermia" OR "hyperthermia of anaesthesia" OR "hyperthermia of the anaesthesia" OR "malignant hyperpyrexia" OR "malignant hyperpyrexia due to anaesthesia" OR "malignant hyperthermia" OR "malignant hyperthermia syndrome"

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: 1 interventional · 9 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 (22182) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:48:15.846Z