Malignant hyperthermia of anesthesia
Synonyms: Hyperthermia of anesthesia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Malignant hyperthermia of anesthesia | Hyperthermia of anesthesia |
| fr | Hyperthermie maligne de l'anesthésie | |
| de | Maligne Hyperthermie | Hyperthermie bei Allgemeinnarkose |
| es | Hipertermia maligna de la anestesia | Hiperpirexia maligna · Hipertermia de la anestesia |
| it | Ipertermia maligna | Iperpiressia maligna · Ipertermia da anestesia |
| nl | Maligne hyperthermie door anesthesie | Hyperthermie door anesthesie |
| pt | Hipertermia maligna da anestesia | Hiperpirexia maligna · Hipertermia da anestesia · Miopatia farmacogenética da anestesia |
| pl | Hipertermia złośliwa przy znieczuleniu | Hipertermia przy znieczuleniu |
| cs | Maligní hypertermie | Hypertermie vyvolaná anestezií · Maligní hyperpyrexie |
| uk | Злоякісна гіпертермія при анестезії | Гіпертермія анестезії |
| zh | 麻醉诱发恶性高热 | 麻醉性体温过高 |
| tr | Anestezinin habis hipertermisi | Anestezi hipertermisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145600 | E | validated | |
| OMIM | 154275 | BTNT | validated | |
| OMIM | 154276 | BTNT | validated | |
| OMIM | 600467 | BTNT | validated | |
| OMIM | 601887 | BTNT | validated | |
| OMIM | 601888 | BTNT | validated | |
| ICD-10 | T88.3 | E | specific | validated |
| ICD-11 | 8C78 | E | specific | validated |
| MONDO | 0018493 | E | validated | |
| MeSH | D008305 | E | validated | |
| UMLS | C0024591 | E | validated | |
| GARD | 6964 | E | validated | |
| MedDRA | 10020844 | 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 (2):
- ORPHA:98742Neurological muscular channelopathy due to a genetic ryanodine receptor defect
rare genetic diseases; rare neurological diseases - ORPHA:466658Rare disease with malignant hyperthermia
rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RYR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | 20301325[PMID] |
| CACNA1S | Major susceptibility factor in | Assessed | HGNC:1397 | ENSG00000081248 | 114208 | 1q32.1 | calcium voltage-gated channel subunit alpha1 S | 9175745[PMID]_9199552[PMID]_20301325[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
23 annotations · validated 2018-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031320 | Cardiomyocyte mitochondrial proliferation | |
| HP:0001945 | Fever | |
| HP:0012416 | Hypercapnia | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0011964 | Intermittent painful muscle spasms | |
| HP:0002047 | Malignant hyperthermia | Diagnostic criterion |
| HP:0001942 | Metabolic acidosis | |
| HP:0003552 | Muscle stiffness | |
| HP:0004755 | Supraventricular tachycardia | Diagnostic criterion |
| HP:0002789 | Tachypnea | |
| HP:0004756 | Ventricular tachycardia | |
| Occasional (29-5%) | ||
| HP:3000005 | Abnormality of masseter muscle | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0006554 | Acute hepatic failure | |
| HP:0001919 | Acute kidney injury | |
| HP:0008942 | Acute rhabdomyolysis | |
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0009045 | Exercise-induced rhabdomyolysis | |
| HP:0001722 | High-output congestive heart failure | |
| HP:0002153 | Hyperkalemia | |
| HP:0002913 | Myoglobinuria | |
| HP:0008978 | Necrotizing myopathy | |
| HP:0006682 | Ventricular extrasystoles | |
Annotation source: 26238698[PMID]_13885389[PMID]_9508059[PMID]_7951247[PMID]_7887423[PMID]_9175745[PMID]_9175745[PMID]_2121248738[PMID]_6072352[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/423
- This record as JSON: /data/d/423.json