Malignant Hyperthermia, Susceptibility To, 6

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

RYR1, CACNA1S, STAC3, SCN4A, BIN1, EDAR, SCN5A, TRAF6, ELP1, CRLF1, ABCA12, CLCF1, HSPG2, MTMR14, TRAPPC9, KDF1, EDARADD, NALCN, MYF6, MYH3, CHRND, CHRNG, CHRNA1, DNM2, GCDH, RYR2, CASQ1, BCHE, RUNX2, SELENON, CBS, DMD, EPHA3, CBSL, MHS2, CACNA2D1, SNRNP27, SLC24A3, MEPE, EIF3K, CACNA1C, ATP2A1, H19, AICDA, GYPA, SPAG9, GYPB, MHS3, TRPV1, FLNA, QDPR, PRODH, ARVD3, KCNA1, IL6, HTR3A, GPI, HAL, GYPE, COL4A1

Drugs

Dantrolene sodium ( DANTRIUM )

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For a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 (145600).

Mapping

In a Belgian kindred with malignant hyperthermia, Robinson et al. (1997) performed a genomewide search for the locus responsible for this disorder. Disease status was classified according to the European IVCT (in vitro contracture tests) protocol. Multipoint linkage analysis showed linkage to the region on 5p between D5S419 and D5S398. They also found linkage of MHS to chromosome 1q (601887). Robinson et al. (1997) stated that studies in a third kindred suggested the existence of at least 1 more MHS locus.