KEGG DISEASE: Malignant hyperthermia

KEGG

DISEASE: Malignant hyperthermia

Entry

H02646                      Disease

Name

Malignant hyperthermia

Description

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.

Category

Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C78  Malignant hyperthermia or hyperpyrexia
     H02646  Malignant hyperthermia

Gene

(MHS1) RYR1 [HSA:6261] [KO:K04961]
(MHS5) CACNA1S [HSA:779] [KO:K04857]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Mullins MF

Title

Malignant Hyperthermia: A Review.

Journal

J Perianesth Nurs 33:582-589 (2018)
DOI:10.1016/j.jopan.2017.04.008

Reference

Authors

Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K

Title

Malignant hyperthermia: a review.

Journal

Orphanet J Rare Dis 10:93 (2015)
DOI:10.1186/s13023-015-0310-1

Reference

PMID:1774073 (MHS1)

Authors

Otsu K, Khanna VK, Archibald AL, MacLennan DH

Title

Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families.

Journal

Genomics 11:744-50 (1991)
DOI:10.1016/0888-7543(91)90083-q

Reference

PMID:9199552 (MHS5)

Authors

Monnier N, Procaccio V, Stieglitz P, Lunardi J

Title

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.

Journal

Am J Hum Genet 60:1316-25 (1997)
DOI:10.1086/515454

LinkDB

» Japanese version

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