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GENATLAS PHENOTYPE
last update : 23-03-2012
Symbol MHS1
Location 19q13.2
HGNC id 7070
Name malignant hyperthermia susceptibility, 1
Other name(s)
  • hyperthermia of anesthesia
  • hyperthermia malignant
  • King-Denborough syndrome
    • Corresponding gene RYR1
    Other symbol(s) MHS, MH
    Main clinical features
  • including abnormal electrically evoked muscle contraction syndrome in absence of drugs
  • malignant hyperpyrexia associated with hypertonicity of the voluntary muscles and elevation of serum creatine phosphokinase (CPK), indicating severe muscle damage
  • rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia, and several nonanesthetic triggers of rhabdomyolysis have been described in susceptible persons: severe exercise in hot conditions, neuroleptic drugs, alcohol, and infections
    • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name ryanodine receptor, calcium release channel (RYR1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mostly missense mutations clustered in the N terminal and central regions
    various types     R614C, G341R are the most prevalent mutations
    Remark(s)