MCID: MLG086
MIFTS: 39

Malignant Hyperthermia Susceptibility

Categories: Cancer diseases

Aliases & Classifications for Malignant Hyperthermia Susceptibility

MalaCards integrated aliases for Malignant Hyperthermia Susceptibility:

Name: Malignant Hyperthermia Susceptibility 25 29 6
Malignant Hyperpyrexia Due to Anesthesia 70
Hyperthermia, Malignant, Susceptibility 39
Malignant Hyperpyrexia 25

Characteristics:

GeneReviews:

25
Penetrance In a multicenter case-control study, the overall penetrance for ryr1-related mhs was 40.6%. the probability of developing mh on exposure to triggers was 0.25 among all individuals with an ryr1 pathogenic variant and 0.76 in survivors of mh reactions (95% ci of the difference 0.41 to 0.59) [ibarra moreno et al 2019].

Classifications:



External Ids:

UMLS 70 C0024591

Summaries for Malignant Hyperthermia Susceptibility

MalaCards based summary : Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia due to anesthesia, is related to malignant hyperthermia 1 and encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, and has symptoms including fever, pain, postoperative and postoperative nausea and vomiting. An important gene associated with Malignant Hyperthermia Susceptibility is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. Affiliated tissues include skeletal muscle and b cells, and related phenotype is muscle.

GeneReviews: NBK1146

Related Diseases for Malignant Hyperthermia Susceptibility

Diseases related to Malignant Hyperthermia Susceptibility via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 1 33.0 SLC6A8 RYR1
2 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.1 RYR1 CACNA1S
3 central core disease of muscle 30.9 RYR1 CACNA1S
4 hyperkalemic periodic paralysis 30.2 SCN4A RYR1 CACNA1S
5 periodic paralysis 30.1 SCN4A CACNA1S
6 neuromuscular disease 30.1 STAC3 SCN4A RYR1 CACNA1S
7 central core myopathy 30.1 STAC3 RYR1 CASQ1 CACNA1S
8 brody myopathy 30.1 RYR1 CASQ1
9 myopathy, congenital, bailey-bloch 30.1 STAC3 RYR1 CACNA1S
10 congenital fiber-type disproportion 30.0 STAC3 RYR1 CACNA1S
11 graves disease 1 30.0 SCN4A CACNA1S
12 ptosis 29.9 STAC3 SCN4A RYR1
13 congenital ptosis 29.9 STAC3 RYR1
14 hypokalemic periodic paralysis, type 1 29.3 STAC3 SCN4A RYR1 CACNG1 CACNA1S
15 isolated elevated serum creatine phosphokinase levels 29.2 SCN4A RYR1 CAV1 CASQ1
16 malignant hyperthermia 28.5 STAC3 SLC6A8 SCN4A RYR1 NME1 MHS6
17 malignant hyperthermia 5 11.6
18 malignant hyperthermia 2 11.6
19 malignant hyperthermia 4 11.6
20 malignant hyperthermia 3 11.6
21 malignant hyperthermia 6 11.6
22 myopathy 10.6
23 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.5
24 batten-turner congenital myopathy 10.3
25 muscular dystrophy 10.3
26 neuroleptic malignant syndrome 10.2
27 mitochondrial myopathy 10.2
28 capillary malformations, congenital 10.2 RYR1 CACNA1S
29 congenital structural myopathy 10.2 RYR1 CACNA1S
30 skeletal muscle disease 10.2 RYR1 CASQ1
31 atrophic muscular disease 10.1 RYR1 CASQ1
32 myotonia congenita 10.1 SCN4A CACNA1S
33 periodic paralyses 10.1 SCN4A CACNA1S
34 neuropathy, hereditary sensory and autonomic, type vii 10.1 SCN4A CACNA1S
35 metabolic acidosis 10.1
36 myoglobinuria 10.1
37 myopathy due to myoadenylate deaminase deficiency 10.1
38 muscular dystrophy, becker type 10.1
39 thyrotoxic periodic paralysis 10.1 SCN4A CACNA1S
40 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 SCN4A RYR1
41 myotonic disease 10.0 SCN4A RYR1
42 acute kidney failure 10.0
43 sudden infant death syndrome 10.0
44 posttransplant acute limbic encephalitis 10.0
45 multiple pterygium syndrome, escobar variant 10.0 STAC3 RYR1 CACNB1
46 paramyotonia congenita of von eulenburg 10.0 SCN4A RYR1 CACNA1S
47 stormorken syndrome 10.0 RYR1 CASQ1
48 timothy syndrome 9.9 CAV1 CACNA1S
49 andersen cardiodysrhythmic periodic paralysis 9.9 SCN4A CACNA1S
50 sleep apnea 9.9

Graphical network of the top 20 diseases related to Malignant Hyperthermia Susceptibility:



Diseases related to Malignant Hyperthermia Susceptibility

Symptoms & Phenotypes for Malignant Hyperthermia Susceptibility

UMLS symptoms related to Malignant Hyperthermia Susceptibility:


fever; pain, postoperative; postoperative nausea and vomiting; muscle rigidity

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 CACNA1S CACNB1 CACNG1 CASQ1 CAV1 RYR1

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spanish Registry of RYR1 and CACNA1S Polymorphisms in Unselected Population for Evaluation of Malignant Hyperthermia Susceptibility (MHS). RYCA Registration Active, not recruiting NCT03964870

Search NIH Clinical Center for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Dantrolene
Dantrolene Sodium

Genetic Tests for Malignant Hyperthermia Susceptibility

Genetic tests related to Malignant Hyperthermia Susceptibility:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility 29

Anatomical Context for Malignant Hyperthermia Susceptibility

MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

40
Skeletal Muscle, B Cells

Publications for Malignant Hyperthermia Susceptibility

Articles related to Malignant Hyperthermia Susceptibility:

(show top 50) (show all 414)
# Title Authors PMID Year
1
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 61 6 25
9030597 1997
2
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. 25 6
21795085 2011
3
Genetic variation in RYR1 and malignant hyperthermia phenotypes. 25 6
19648156 2009
4
Mutations in RYR1 in malignant hyperthermia and central core disease. 6 25
16917943 2006
5
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. 6 25
16835904 2006
6
Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. 6 25
12732639 2003
7
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. 25 6
12124989 2002
8
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. 6 25
12066726 2002
9
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. 6 25
9334205 1997
10
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes. 6 61
30499100 2019
11
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. 6 61
29635721 2018
12
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. 61 6
23476141 2013
13
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. 6 61
18564801 2008
14
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 6 61
17483490 2007
15
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 61 6
16163667 2005
16
4-chloro-m-cresol cannot detect malignant hyperthermia equivocal cells in an alternative minimally invasive diagnostic test of malignant hyperthermia susceptibility. 61 6
15281512 2004
17
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. 61 6
12411788 2002
18
Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family. 61 6
11493496 2001
19
A case of discordance between genotype and phenotype in a malignant hyperthermia family. 61 6
10352931 1999
20
Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. 61 6
8602662 1996
21
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data. 25 61
31301762 2019
22
Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia. 6
31016048 2019
23
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. 25 61
30168660 2018
24
Genetic epidemiology of malignant hyperthermia in the UK. 6
30236257 2018
25
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. 6
28818389 2017
26
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. 25 61
28326467 2017
27
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. 61 25
26188342 2015
28
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 6
25957634 2015
29
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 6
25637381 2015
30
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. 6
25735680 2015
31
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 6
25558065 2015
32
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. 6
23842196 2014
33
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. 6
24433488 2014
34
Using exome data to identify malignant hyperthermia susceptibility mutations. 61 25
24195946 2013
35
Genotype-phenotype correlations in recessive RYR1-related myopathies. 6
23919265 2013
36
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. 6
23459219 2013
37
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. 6
23628358 2013
38
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 6
23553787 2013
39
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 6
23558838 2013
40
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. 6
23553484 2013
41
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 6
22473935 2012
42
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. 6
21674524 2011
43
Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases. 25 61
21376345 2011
44
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. 25 61
19807743 2009
45
Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met. 6
19919814 2009
46
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 6
19645060 2009
47
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 6
18253926 2008
48
Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area. 6
16958617 2007
49
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. 61 25
17122579 2006
50
Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia. 6
16732090 2006

Variations for Malignant Hyperthermia Susceptibility

ClinVar genetic disease variations for Malignant Hyperthermia Susceptibility:

6 (show top 50) (show all 93)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) SNV Pathogenic 133012 rs193922839 GRCh37: 19:39025415-39025415
GRCh38: 19:38534775-38534775
2 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Pathogenic 12977 rs118192177 GRCh37: 19:38986923-38986923
GRCh38: 19:38496283-38496283
3 RYR1 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) SNV Pathogenic 12964 rs118192172 GRCh37: 19:38948185-38948185
GRCh38: 19:38457545-38457545
4 RYR1 NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) SNV Pathogenic 12970 rs121918593 GRCh37: 19:38990633-38990633
GRCh38: 19:38499993-38499993
5 RYR1 NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) SNV Likely pathogenic 133202 rs193922816 GRCh37: 19:38991282-38991282
GRCh38: 19:38500642-38500642
6 RYR1 NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) SNV Likely pathogenic 133098 rs146876145 GRCh37: 19:39076780-39076780
GRCh38: 19:38586140-38586140
7 RYR1 NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) SNV Likely pathogenic 12971 rs28933397 GRCh37: 19:38991294-38991294
GRCh38: 19:38500654-38500654
8 RYR1 NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter) SNV Likely pathogenic 929034 GRCh37: 19:38955328-38955328
GRCh38: 19:38464688-38464688
9 RYR1 NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) SNV Likely pathogenic 133029 rs193922764 GRCh37: 19:38942482-38942482
GRCh38: 19:38451842-38451842
10 RYR1 NM_000540.2(RYR1):c.7344T>C (p.Gly2448=) SNV Uncertain significance 329060 rs199813873 GRCh37: 19:38991266-38991266
GRCh38: 19:38500626-38500626
11 RYR1 NM_000540.2(RYR1):c.9846C>T (p.Pro3282=) SNV Uncertain significance 329094 rs886054399 GRCh37: 19:39008159-39008159
GRCh38: 19:38517519-38517519
12 CACNA1S NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) SNV Uncertain significance 294773 rs886045801 GRCh37: 1:201058514-201058514
GRCh38: 1:201089386-201089386
13 CACNA1S NM_000069.3(CACNA1S):c.695-6del Deletion Uncertain significance 294775 rs748832613 GRCh37: 1:201058597-201058597
GRCh38: 1:201089469-201089469
14 RYR1 NM_000540.2(RYR1):c.9261C>T (p.Ile3087=) SNV Uncertain significance 329087 rs56338790 GRCh37: 19:39002912-39002912
GRCh38: 19:38512272-38512272
15 CACNA1S NM_000069.3(CACNA1S):c.*260T>A SNV Uncertain significance 294698 rs886045791 GRCh37: 1:201008699-201008699
GRCh38: 1:201039571-201039571
16 RYR1 NM_000540.2(RYR1):c.11292C>T (p.Tyr3764=) SNV Uncertain significance 329106 rs886054401 GRCh37: 19:39025392-39025392
GRCh38: 19:38534752-38534752
17 RYR1 NM_000540.2(RYR1):c.10359C>T (p.Arg3453=) SNV Uncertain significance 329099 rs376830015 GRCh37: 19:39013868-39013868
GRCh38: 19:38523228-38523228
18 RYR1 NM_000540.2(RYR1):c.537+13G>A SNV Uncertain significance 328992 rs754569485 GRCh37: 19:38934914-38934914
GRCh38: 19:38444274-38444274
19 RYR1 NM_000540.2(RYR1):c.12084G>T (p.Ser4028=) SNV Uncertain significance 329112 rs571477269 GRCh37: 19:39037156-39037156
GRCh38: 19:38546516-38546516
20 RYR1 NM_000540.2(RYR1):c.-81dup Duplication Uncertain significance 328986 rs886054374 GRCh37: 19:38924386-38924387
GRCh38: 19:38433746-38433747
21 RYR1 NM_000540.2(RYR1):c.13437+14C>A SNV Uncertain significance 329129 rs771599721 GRCh37: 19:39056425-39056425
GRCh38: 19:38565785-38565785
22 RYR1 NM_000540.2(RYR1):c.6318C>A (p.Ala2106=) SNV Uncertain significance 329047 rs769443054 GRCh37: 19:38985035-38985035
GRCh38: 19:38494395-38494395
23 RYR1 NM_000540.2(RYR1):c.-70dup Duplication Uncertain significance 328988 rs886054376 GRCh37: 19:38924397-38924398
GRCh38: 19:38433757-38433758
24 CACNA1S NM_000069.3(CACNA1S):c.*109G>T SNV Uncertain significance 294701 rs886045793 GRCh37: 1:201008850-201008850
GRCh38: 1:201039722-201039722
25 RYR1 NM_000540.2(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup) Duplication Uncertain significance 329128 rs886054409 GRCh37: 19:39056329-39056330
GRCh38: 19:38565689-38565690
26 RYR1 NM_000540.2(RYR1):c.7053T>C (p.Asn2351=) SNV Uncertain significance 329058 rs748167551 GRCh37: 19:38990300-38990300
GRCh38: 19:38499660-38499660
27 RYR1 NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) SNV Uncertain significance 287319 rs867851900 GRCh37: 19:39056343-39056343
GRCh38: 19:38565703-38565703
28 RYR1 NM_000540.2(RYR1):c.11193+3G>A SNV Uncertain significance 329104 rs886054400 GRCh37: 19:39023184-39023184
GRCh38: 19:38532544-38532544
29 RYR1 NM_000540.2(RYR1):c.8082G>A (p.Glu2694=) SNV Uncertain significance 329076 rs745619519 GRCh37: 19:38995402-38995402
GRCh38: 19:38504762-38504762
30 RYR1 NM_000540.2(RYR1):c.5438G>T (p.Arg1813Met) SNV Uncertain significance 329037 rs886054389 GRCh37: 19:38976733-38976733
GRCh38: 19:38486093-38486093
31 RYR1 NM_000540.2(RYR1):c.12619C>A (p.Pro4207Thr) SNV Uncertain significance 329115 rs886054403 GRCh37: 19:39052089-39052089
GRCh38: 19:38561449-38561449
32 RYR1 NM_000540.2(RYR1):c.7842C>T (p.Ile2614=) SNV Uncertain significance 329069 rs777420696 GRCh37: 19:38993526-38993526
GRCh38: 19:38502886-38502886
33 RYR1 NM_000540.2(RYR1):c.3299G>A (p.Arg1100His) SNV Uncertain significance 329008 rs755973279 GRCh37: 19:38958370-38958370
GRCh38: 19:38467730-38467730
34 RYR1 NM_000540.2(RYR1):c.3773G>T (p.Arg1258Leu) SNV Uncertain significance 329013 rs886054381 GRCh37: 19:38964024-38964024
GRCh38: 19:38473384-38473384
35 RYR1 NM_000540.2(RYR1):c.13038T>C (p.Ala4346=) SNV Uncertain significance 329122 rs758223017 GRCh37: 19:39056012-39056012
GRCh38: 19:38565372-38565372
36 RYR1 NM_000540.2(RYR1):c.6651C>T (p.Gly2217=) SNV Uncertain significance 329053 rs371006370 GRCh37: 19:38986957-38986957
GRCh38: 19:38496317-38496317
37 RYR1 NM_000540.2(RYR1):c.4637A>G (p.Lys1546Arg) SNV Uncertain significance 329031 rs759947063 GRCh37: 19:38973683-38973683
GRCh38: 19:38483043-38483043
38 RYR1 NM_000540.2(RYR1):c.13352C>A (p.Ala4451Asp) SNV Uncertain significance 329127 rs886054408 GRCh37: 19:39056326-39056326
GRCh38: 19:38565686-38565686
39 CACNA1S NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) SNV Uncertain significance 294763 rs777962341 GRCh37: 1:201046247-201046247
GRCh38: 1:201077119-201077119
40 CACNA1S NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) SNV Uncertain significance 294734 rs886045798 GRCh37: 1:201031131-201031131
GRCh38: 1:201062003-201062003
41 CACNA1S NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) SNV Uncertain significance 225282 rs116347156 GRCh37: 1:201031133-201031133
GRCh38: 1:201062005-201062005
42 RYR1 NM_000540.2(RYR1):c.7136C>A (p.Ala2379Asp) SNV Uncertain significance 329059 rs886054394 GRCh37: 19:38990383-38990383
GRCh38: 19:38499743-38499743
43 CACNA1S NM_000069.3(CACNA1S):c.152+14C>T SNV Uncertain significance 294786 rs201285556 GRCh37: 1:201081302-201081302
GRCh38: 1:201112174-201112174
44 CACNA1S NM_000069.3(CACNA1S):c.1948+13G>C SNV Uncertain significance 294751 rs538625530 GRCh37: 1:201044610-201044610
GRCh38: 1:201075482-201075482
45 RYR1 NM_000540.2(RYR1):c.9555-10C>T SNV Uncertain significance 329089 rs774666035 GRCh37: 19:39006717-39006717
GRCh38: 19:38516077-38516077
46 RYR1 NM_000540.2(RYR1):c.6910G>A (p.Gly2304Ser) SNV Uncertain significance 329056 rs377080876 GRCh37: 19:38989766-38989766
GRCh38: 19:38499126-38499126
47 RYR1 NM_000540.2(RYR1):c.6730C>T (p.Arg2244Trp) SNV Uncertain significance 329054 rs772753793 GRCh37: 19:38987115-38987115
GRCh38: 19:38496475-38496475
48 RYR1 NM_000540.2(RYR1):c.4294-4C>T SNV Uncertain significance 256506 rs368108496 GRCh37: 19:38968346-38968346
GRCh38: 19:38477706-38477706
49 CACNA1S NM_000069.3(CACNA1S):c.398+3G>A SNV Uncertain significance 294779 rs764710968 GRCh37: 1:201063007-201063007
GRCh38: 1:201093879-201093879
50 RYR1 NM_001042723.2(RYR1):c.12845_12854delinsT (p.Ala4282_Ala4285delinsVal) Indel Uncertain significance 199216 rs796065337 GRCh37: 19:39055834-39055843
GRCh38: 19:38565194-38565203

Expression for Malignant Hyperthermia Susceptibility

Search GEO for disease gene expression data for Malignant Hyperthermia Susceptibility.

Pathways for Malignant Hyperthermia Susceptibility

Pathways related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 SCN4A CAV1 CACNG1 CACNB1 CACNA1S
2
Show member pathways
12.49 SCN4A RYR1 CACNG1 CACNB1 CACNA1S
3
Show member pathways
12.41 RYR1 CACNG1 CACNB1 CACNA1S
4
Show member pathways
12.25 RYR1 CASQ1 CACNB1 CACNA1S
5
Show member pathways
12.19 RYR1 CACNG1 CACNB1 CACNA1S
6 12.12 RYR1 CASQ1 CACNA1S
7 12.09 CACNG1 CACNB1 CACNA1S
8
Show member pathways
11.98 CACNG1 CACNB1 CACNA1S
9
Show member pathways
11.95 CAV1 CACNG1 CACNB1 CACNA1S
10 11.88 CACNG1 CACNB1 CACNA1S
11
Show member pathways
11.78 CACNG1 CACNB1 CACNA1S
12 11.71 RYR1 CACNG1 CACNB1 CACNA1S
13 11.52 CACNG1 CACNB1 CACNA1S
14
Show member pathways
11.33 SCN4A CACNG1 CACNB1 CACNA1S
15 11.12 CACNB1 CACNA1S
16 10.95 RYR1 CACNG1 CACNB1 CACNA1S
17 10 RYR1 CACNG1 CACNB1 CACNA1S

GO Terms for Malignant Hyperthermia Susceptibility

Cellular components related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.46 STAC3 CASQ1 CACNG1 CACNA1S
2 sarcoplasmic reticulum membrane GO:0033017 9.43 RYR1 CASQ1
3 I band GO:0031674 9.43 RYR1 CASQ1 CACNA1S
4 smooth endoplasmic reticulum GO:0005790 9.4 RYR1 CASQ1
5 L-type voltage-gated calcium channel complex GO:1990454 9.37 CACNG1 CACNA1S
6 terminal cisterna GO:0014802 9.32 RYR1 CASQ1
7 voltage-gated calcium channel complex GO:0005891 9.26 STAC3 CACNG1 CACNB1 CACNA1S
8 sarcolemma GO:0042383 9.1 STAC3 RYR1 CAV1 CASQ1 CACNG1 CACNB1

Biological processes related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.73 SLC6A8 SCN4A RYR1 CACNG1 CACNB1 CACNA1S
2 regulation of ion transmembrane transport GO:0034765 9.62 SCN4A CACNG1 CACNB1 CACNA1S
3 cardiac conduction GO:0061337 9.54 CACNG1 CACNB1 CACNA1S
4 regulation of cytosolic calcium ion concentration GO:0051480 9.49 RYR1 CAV1
5 mammary gland development GO:0030879 9.48 NME1 CAV1
6 skeletal muscle fiber development GO:0048741 9.46 STAC3 RYR1
7 calcium ion transmembrane transport GO:0070588 9.46 RYR1 CACNG1 CACNB1 CACNA1S
8 cellular response to caffeine GO:0071313 9.43 RYR1 CACNA1S
9 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.4 CACNG1 CACNB1
10 muscle contraction GO:0006936 9.26 SLC6A8 SCN4A RYR1 CACNA1S
11 calcium ion transport GO:0006816 9.02 RYR1 CAV1 CACNG1 CACNB1 CACNA1S

Molecular functions related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.5 SCN4A RYR1 CACNA1S
2 voltage-gated ion channel activity GO:0005244 9.46 SCN4A CACNG1 CACNB1 CACNA1S
3 high voltage-gated calcium channel activity GO:0008331 9.26 CACNB1 CACNA1S
4 calcium channel activity GO:0005262 9.26 RYR1 CACNG1 CACNB1 CACNA1S
5 voltage-gated calcium channel activity GO:0005245 8.92 RYR1 CACNG1 CACNB1 CACNA1S

Sources for Malignant Hyperthermia Susceptibility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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