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Malignant hyperthermia
6 OMIM references -
2 associated genes
19 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant centronuclear myopathy
Benign Samaritan congenital myopathy
Central core disease
Congenital multicore myopathy with external ophthalmoplegia
Hypokalemic periodic paralysis
King-Denborough syndrome
Moderate multiminicore disease with hand involvement
Thyrotoxic periodic paralysis
Catecholaminergic polymorphic ventricular tachycardia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Congenital atransferrinemia
Early-onset myopathy with fatal cardiomyopathy
Familial isolated dilated cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Synonym(s):
- Hyperthermia of anesthesia
- Malignant hyperpyrexia
- Pharmacogenetic myopathy of anesthesia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Injury, poisoning and certain other consequences of external causes -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: D008305

Gene symbol UniProt reference OMIM reference
CACNA1S Q13698114208
RYR1 P21817180901
No signs/symptoms info available.