Malignant Hyperthermia, Susceptibility To, 1; Mhs1

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

Genes related to Malignant Hyperthermia, Susceptibility To, 1; Mhs1

RYR1

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Clinical Features

Top most frequent phenotypes and symptoms related to Malignant Hyperthermia, Susceptibility To, 1; Mhs1

Intellectual disability
Seizures
Short stature
Generalized hypotonia
Scoliosis
Hypertelorism
Strabismus
Muscle weakness
Abnormal facial shape
Cryptorchidism

And another 67 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Malignant Hyperthermia, Susceptibility To, 1; Mhs1 Is also known as mhs, hyperthermia of anesthesia, mh, hyperpyrexia, malignant.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Malignant Hyperthermia, Susceptibility To, 1; Mhs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Malignant Hyperthermia Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). RYR1, CACNA1S Specificity 50 % Genes 100 %
Congenital Myopathy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...) View the complete list with 1 more genes Panel complete gene list RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7, NEB Specificity 5 % Genes 100 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...) View the complete list with 27 more genes Panel complete gene list RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD, ISCU, FDX2, DYSF, AGL, ENO3, ETFA, ETFB, ETFDH, FKTN, GAA, ALDOA, AMPD1, HADHA, HADHB, LDHA, MT-CYB, ATP2A1, PFKM, PGAM2, PGK1, ACADM, PGM1, PHKA1, PHKB, POLG, ACADVL, PYGM Specificity 3 % Genes 100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...) View the complete list with 27 more genes Panel complete gene list RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD, ISCU, FDX2, DYSF, AGL, ENO3, ETFA, ETFB, ETFDH, FKTN, GAA, ALDOA, AMPD1, HADHA, HADHB, LDHA, MT-CYB, ATP2A1, PFKM, PGAM2, PGK1, ACADM, PGM1, PHKA1, PHKB, POLG, ACADVL, PYGM Specificity 3 % Genes 100 %
Comprehensive Neuromuscular Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...) View the complete list with 59 more genes Panel complete gene list RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3, CAV3, LDB3, BSCL2, SELENON, TRIM32, SYNE2, SYNE1, FKRP, CFL2, CHAT, POMGNT1, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, COL6A1, COL6A2, COL6A3, COLQ, GNE, CRYAB, SIL1, MTMR14, DOK7, DAG1, ANO5, DES, PLEKHG5, DMD, DNM2, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, GLE1, AMPD1, IGHMBP2, ITGA7, LAMA2, LARGE1, LMNA, MTM1, MUSK, MYH2, MYH7, NEB, PABPN1, PLEC, PMM2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 2 % Genes 100 %
Congenital Muscular Dystrophy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR1, TCAP, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM3, FKTN, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMT1 Specificity 5 % Genes 100 %
Congenital Muscular Myopathy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR1, BIN1, TNNT1, TPM2, TPM3, ACTA1, SELENON, CFL2, CNTN1, DNM2, KBTBD13, MTM1, MYF6, MYH7, NEB Specificity 7 % Genes 100 %

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Sources and references

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OMIM Genetic Syndrome Finder

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