Amish, Mennonite, and Hutterite
Genetic Disorder Database

Malignant hyperthermia susceptibility

Disorder
OMIM #: #145600  (Click to access OMIM database)
Disorder: Malignant hyperthermia susceptibility 
Also known as: MHS 
Clinical
Phenotype: Susceptibility to malignant hyperthermia, hypertonicity, hyperkalemia, elevated CPK, precipitated by administration of general anesthesia  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: RYR1
Base Change: C>T, at nucleotide 1840
Amino Acid Change: arg 614 --> cys
Last updated: 2017-11-03 

References
Serfas KD, Bose D, Patel L, Wrogemann K, Phillips MS, MacLennan DH, Greenberg CR. (1996) Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology 84(2):322-9.
PubMed ID: 8602662 

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