Details of Disease

General Information of Disease (ID: DISVMC6G)

Disease Name Malignant hyperthermia, susceptibility to, 5
Synonyms
susceptibility to malignant hyperthermia 5; MHS5; malignant hyperthermia susceptibility type 5; Mhs5; malignant hyperpyrexia susceptibility type 5; malignant hyperthermia of anesthesia caused by mutation in CACNA1S; malignant hyperthermia, susceptibility to, type 5; CACNA1S malignant hyperthermia of anaesthesia; malignant hyperthermia, susceptibility to, 5; CACNA1S malignant hyperthermia of anesthesia; malignant hyperthermia of anaesthesia caused by mutation in CACNA1S; malignant hyperthermia susceptibility 5
Definition Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.
Disease Hierarchy
DISP7BPN: Malignant hyperthermia, susceptibility to
DISVMC6G: Malignant hyperthermia, susceptibility to, 5
Disease Identifiers
MONDO ID
MONDO_0011163
MESH ID
C535698
UMLS CUI
C1866077
OMIM ID
601887
MedGen ID
356151

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1S TT94HRF Strong Autosomal dominant [1]
CACNA1S TT94HRF Strong CausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNA1S OT96MCM2 Strong Autosomal dominant [1]
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References

1 Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin Genet. 2001 Mar;59(3):178-84. doi: 10.1034/j.1399-0004.2001.590306.x.
2 Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.Neurol Res. 2015 Mar;37(3):246-52. doi: 10.1179/1743132814Y.0000000440. Epub 2014 Sep 12.