Exercise-induced malignant hyperthermia
Synonyms: Exertional heat stroke
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Exercise-induced malignant hyperthermia | Exertional heat stroke |
| fr | Hyperthermie maligne induite par l'exercice | Hyperthermie maligne d'effort |
| de | Maligne Hyperthermie, anstrengungsinduzierte | Hitzeerschöpfung |
| es | Hipertermia maligna inducida por el ejercicio | Golpe de calor por esfuerzo |
| it | Ipertermia maligna indotta dall'esercizio fisico | |
| nl | Maligne hyperthermie geïnduceerd door lichaamsbeweging | Inspanningsgebonden hitteberoerte |
| pt | Hipertermia maligna induzida pelo exercício | |
| pl | Hipertermia złośliwa indukowana wysiłkiem fizycznym | = en |
| cs | Zátěžová maligní hypertermie | Exertional heat stroke · Úpal z námahy |
| uk | Злоякісна гіпертермія, спричинена фізичним навантаженням | Тепловий удар від перенапруження |
| zh | 运动诱发的恶性高热 | 劳力性热射病 |
| tr | Egzersize bağlı habis hipertermi | Fiziksel zorlayıcı sıcak inmesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | T88.3 | NTBT | attributed | validated |
| ICD-11 | NF06.0 | E | specific | validated |
| MONDO | 0018752 | E | validated | |
| UMLS | C5700399 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:466658Rare disease with malignant hyperthermia
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RYR1 | Major susceptibility factor in | Assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | 23628358[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_22538307[PMID]_23476141[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
41 annotations · validated 2021-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002047 | Malignant hyperthermia | |
| Frequent (79-30%) | ||
| HP:0030850 | Abnormal pulse pressure | |
| HP:0012378 | Fatigue | |
| HP:0002315 | Headache | |
| HP:0002018 | Nausea | |
| HP:0011703 | Sinus tachycardia | |
| HP:0002789 | Tachypnea | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0005135 | Abnormal T-wave | |
| HP:0001892 | Abnormal bleeding | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0001251 | Ataxia | |
| HP:0001289 | Confusion | |
| HP:0030830 | Crackles | |
| HP:0001410 | Decreased liver function | |
| HP:0031258 | Delirium | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0031284 | Flushing | |
| HP:0002153 | Hyperkalemia | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0002901 | Hypocalcemia | |
| HP:0012417 | Hypocapnia | |
| HP:0002615 | Hypotension | |
| HP:0003128 | Lactic acidosis | |
| HP:0001254 | Lethargy | |
| HP:0001324 | Muscle weakness | |
| HP:0100520 | Oliguria | |
| HP:0001657 | Prolonged QT interval | |
| HP:0012250 | ST segment depression | |
| HP:0001250 | Seizure | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0000970 | Anhidrosis | |
| HP:0005521 | Disseminated intravascular coagulation | |
| HP:0000958 | Dry skin | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0001399 | Hepatic failure | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30725820[PMID]_28128878[PMID]_33190635[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466650
- This record as JSON: /data/d/466650.json