KEGG   DISEASE: 悪性高熱症
エントリ  
H02646                                                             
名称    
悪性高熱症
概要    
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle most often associated with the administration of volatile general anesthetic agents and/or the muscle relaxant succinylcholine. MH is likely to be fatal if untreated. In most cases, MH is caused by a defect in the ryanodine receptor.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  神経筋接合部または筋の疾患
   原発性筋疾患
    8C78  悪性高体温症または異常高熱
     H02646  悪性高熱症
病因遺伝子 
(MHS1) RYR1 [HSA:6261] [KO:K04961]
(MHS5) CACNA1S [HSA:779] [KO:K04857]
リンク   
ICD-11: 8C78
MeSH: D008305
OMIM: 145600 601887
文献    
  著者
Mullins MF
  タイトル
Malignant Hyperthermia: A Review.
  雑誌
J Perianesth Nurs 33:582-589 (2018)
DOI:10.1016/j.jopan.2017.04.008
文献    
  著者
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K
  タイトル
Malignant hyperthermia: a review.
  雑誌
Orphanet J Rare Dis 10:93 (2015)
DOI:10.1186/s13023-015-0310-1
文献    
PMID:1774073 (MHS1)
  著者
Otsu K, Khanna VK, Archibald AL, MacLennan DH
  タイトル
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families.
  雑誌
Genomics 11:744-50 (1991)
DOI:10.1016/0888-7543(91)90083-q
文献    
PMID:9199552 (MHS5)
  著者
Monnier N, Procaccio V, Stieglitz P, Lunardi J
  タイトル
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent  calcium-channel receptor in skeletal muscle.
  雑誌
Am J Hum Genet 60:1316-25 (1997)
DOI:10.1086/515454
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