Details of Disease

General Information of Disease (ID: DIS2178A)

Disease Name Malignant hyperthermia, susceptibility to, 1
Synonyms
hyperpyrexia, malignant; susceptibility to malignant hyperthermia 1; King syndrome; MHS; hyperpyrexia, malignant;MH KING syndrome, included; MHS1; malignant hyperthermia susceptibility type 1; hyperthermia of anaesthesia; King-Denborough syndrome; hyperthermia of anesthesia; King-Denborough syndrome, included; malignant hyperthermia, susceptibility to, 1; RYR1 malignant hyperthermia of anesthesia; malignant hyperthermia susceptibility 1; RYR1 malignant hyperthermia of anaesthesia; malignant hyperthermia of anaesthesia caused by mutation in RYR1; malignant hyperthermia, susceptibility to, type 1; malignant hyperthermia of anesthesia caused by mutation in RYR1
Definition Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.
Disease Hierarchy
DISP7BPN: Malignant hyperthermia, susceptibility to
DIS2178A: Malignant hyperthermia, susceptibility to, 1
Disease Identifiers
MONDO ID
MONDO_0007783
MESH ID
C535694
UMLS CUI
C2930980
OMIM ID
145600
MedGen ID
443948

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
RYR1 TTU5CIX Strong Genetic Variation [1]
RYR1 TTU5CIX Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RYR1 OTWUB65S Definitive Autosomal dominant [2]
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References

1 Reduced threshold for store overload-induced Ca(2+) release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.Biochem J. 2017 Aug 7;474(16):2749-2761. doi: 10.1042/BCJ20170282.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.