Aliases & Classifications for Malignant Hyperthermia Susceptibility

MalaCards integrated aliases for Malignant Hyperthermia Susceptibility:

Name: Malignant Hyperthermia Susceptibility 24 29 6
Malignant Hyperpyrexia Due to Anesthesia 73
Hyperthermia, Malignant, Susceptibility 40
Malignant Hyperpyrexia 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance of mh susceptibility is unknown. what is known is that up to 50% of individuals with mh susceptibility have undergone anesthesia uneventfully despite use of one of the agents known to trigger mh...

External Ids:

UMLS 73 C0024591

Summaries for Malignant Hyperthermia Susceptibility

MalaCards based summary : Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia due to anesthesia, is related to central core disease of muscle and central core myopathy, and has symptoms including fever, muscle rigidity and pain, postoperative. 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 MAPK signaling pathway. Affiliated tissues include testes, skeletal muscle and bone, 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 all 45)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 30.4 CACNA1S RYR1
2 central core myopathy 30.1 CACNA1S RYR1
3 malignant hyperthermia 30.0 CACNA1S CACNB1 CACNG1 CASQ1 MHS2 MHS3
4 malignant hyperthermia 1 12.1
5 malignant hyperthermia 5 11.7
6 malignant hyperthermia 2 11.6
7 malignant hyperthermia 3 11.6
8 malignant hyperthermia 4 11.6
9 malignant hyperthermia 6 11.6
10 myopathy 10.3
11 malignant hyperthermia of anesthesia 10.2 CACNA1S RYR1
12 myopathy, congenital, bailey-bloch 10.2 CACNA1S RYR1
13 rigidity and multifocal seizure syndrome, lethal neonatal 10.1
14 multiminicore disease 10.1 LOC107985290 MAP4K1 RYR1
15 myopathy, congenital 10.0
16 myopathy due to myoadenylate deaminase deficiency 10.0
17 neuroleptic malignant syndrome 10.0
18 periodic paralyses 10.0 CACNA1S SCN4A
19 hyperkalemic periodic paralysis 10.0 CACNA1S SCN4A
20 myotonia congenita 9.9 CACNA1S SCN4A
21 familial periodic paralysis 9.9 CACNA1S RYR1 SCN4A
22 hypokalemic periodic paralysis, type 1 9.9 CACNA1S RYR1 SCN4A
23 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9 RYR1 SCN4A
24 noonan syndrome 1 9.9
25 schwartz-jampel syndrome, type 1 9.9
26 graves disease 1 9.9
27 pseudo-turner syndrome 9.9
28 isolated hyperckemia 9.9
29 posttransplant acute limbic encephalitis 9.9
30 mitochondrial myopathy 9.9
31 brody myopathy 9.9
32 brittle bone disorder 9.9
33 rippling muscle disease 2 9.9
34 motor neuron disease 9.9
35 muscle disorders 9.9
36 sleep apnea 9.9
37 scoliosis 9.9
38 ptosis 9.9
39 congenital ptosis 9.9
40 thrombosis 9.9
41 placenta praevia 9.9
42 muscular dystrophy 9.9
43 metal metabolism disorder 9.9 CACNA1S SCN4A
44 andersen cardiodysrhythmic periodic paralysis 9.8 CACNA1S SCN4A
45 muscular disease 9.8 CACNA1S CASQ1 RYR1 SCN4A

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

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CACNA1S CACNB1 CACNG1 CASQ1 CAV1 RYR1

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Testes, Skeletal Muscle, Bone, Placenta

Publications for Malignant Hyperthermia Susceptibility

Articles related to Malignant Hyperthermia Susceptibility:

(show top 50) (show all 169)
# Title Authors Year
1
CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population: Erratum. ( 29443706 )
2018
2
Successful Laparoscopic Surgery without Neuromuscular Blockade in a Patient with Malignant Hyperthermia Susceptibility. ( 30142382 )
2018
3
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. ( 30168660 )
2018
4
Association between known or strongly suspected malignant hyperthermia susceptibility and postoperative outcomes: an observational population-based study. ( 30421146 )
2018
5
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
6
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
7
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. ( 28952030 )
2017
8
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
9
A Primer for Diagnosing and Managing Malignant Hyperthermia Susceptibility. ( 28926348 )
2017
10
Evidence of malignant hyperthermia in patients administered triggering agents before malignant hyperthermia susceptibility identified: missed opportunities prior to diagnosis. ( 29137581 )
2017
11
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
12
Malignant Hyperthermia Susceptibility and Related Diseases. ( 28902673 )
2017
13
Skeletal Muscle Metabolic Dysfunction in Patients With Malignant Hyperthermia Susceptibility. ( 28682948 )
2017
14
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. ( 26691049 )
2015
15
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. ( 26188342 )
2015
16
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. ( 25958340 )
2015
17
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. ( 25086907 )
2014
18
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. ( 25614869 )
2014
19
A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. ( 24455316 )
2013
20
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. ( 23957432 )
2013
21
Using exome data to identify malignant hyperthermia susceptibility mutations. ( 24195946 )
2013
22
CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. ( 23460944 )
2013
23
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. ( 22976939 )
2013
24
Core myopathies and malignant hyperthermia susceptibility: a review. ( 23617272 )
2013
25
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. ( 23476141 )
2013
26
3,5-Di-t-butyl catechol is a potent human ryanodine receptor 1 activator, not suitable for the diagnosis of malignant hyperthermia susceptibility. ( 22480578 )
2012
27
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. ( 22030266 )
2012
28
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. ( 22547813 )
2012
29
A medical student with malignant hyperthermia susceptibility. ( 22417041 )
2012
30
Sevoflurane as a potential replacement for halothane in diagnostic testing for malignant hyperthermia susceptibility: results of a preliminary study. ( 21730923 )
2011
31
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. ( 23484448 )
2010
32
Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility. ( 19454545 )
2009
33
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. ( 19807743 )
2009
34
Malignant hyperthermia susceptibility in a patient with mitochondrial disorder. ( 19714456 )
2009
35
DNA analysis and malignant hyperthermia susceptibility. ( 18564791 )
2008
36
Molecular genetic testing to diagnose malignant hyperthermia susceptibility. ( 18502356 )
2008
37
An in-vivo metabolic test for detecting malignant hyperthermia susceptibility in humans: a pilot study. ( 18713904 )
2008
38
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. ( 18306019 )
2008
39
Statin-induced adverse effects and malignant hyperthermia susceptibility: comment on the article by Guis et al. ( 17266123 )
2007
40
Perinatal diagnosis of malignant hyperthermia susceptibility. ( 17591153 )
2007
41
Recurrent postoperative deep vein thrombosis in a patient with obstructive sleep apnea and malignant hyperthermia susceptibility. ( 18056220 )
2007
42
Male preponderance of patients testing positive for malignant hyperthermia susceptibility. ( 17430325 )
2007
43
Perinatal diagnosis of malignant hyperthermia susceptibility. ( 16732128 )
2006
44
Follow-up of patients tested for malignant hyperthermia susceptibility. ( 16780615 )
2006
45
Malignant hyperthermia susceptibility and the trauma patient. ( 16001602 )
2005
46
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. ( 15731587 )
2005
47
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. ( 16163667 )
2005
48
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? ( 14732615 )
2004
49
Molecular genetic testing for malignant hyperthermia susceptibility. ( 15114203 )
2004
50
Ryanodine contracture threshold times for diagnosis of malignant hyperthermia susceptibility: an experimental approach from a single laboratory. ( 15374556 )
2004

Variations for Malignant Hyperthermia Susceptibility

ClinVar genetic disease variations for Malignant Hyperthermia Susceptibility:

6 (show top 50) (show all 971)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.1840C> T (p.Arg614Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192172 GRCh37 Chromosome 19, 38948185: 38948185
2 RYR1 NM_000540.2(RYR1): c.1840C> T (p.Arg614Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192172 GRCh38 Chromosome 19, 38457545: 38457545
3 RYR1 NM_000540.2(RYR1): c.7300G> A (p.Gly2434Arg) single nucleotide variant Pathogenic rs121918593 GRCh37 Chromosome 19, 38990633: 38990633
4 RYR1 NM_000540.2(RYR1): c.7300G> A (p.Gly2434Arg) single nucleotide variant Pathogenic rs121918593 GRCh38 Chromosome 19, 38499993: 38499993
5 RYR1 NM_000540.2(RYR1): c.7372C> T (p.Arg2458Cys) single nucleotide variant Likely pathogenic rs28933397 GRCh37 Chromosome 19, 38991294: 38991294
6 RYR1 NM_000540.2(RYR1): c.7372C> T (p.Arg2458Cys) single nucleotide variant Likely pathogenic rs28933397 GRCh38 Chromosome 19, 38500654: 38500654
7 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh37 Chromosome 19, 38986923: 38986923
8 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh38 Chromosome 19, 38496283: 38496283
9 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh37 Chromosome 19, 38995998: 38995998
10 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh38 Chromosome 19, 38505358: 38505358
11 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh37 Chromosome 19, 39034444: 39034444
12 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh38 Chromosome 19, 38543804: 38543804
13 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh37 Chromosome 19, 39002893: 39002893
14 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh38 Chromosome 19, 38512253: 38512253
15 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 GRCh37 Chromosome 1, 201030461: 201030461
16 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 GRCh38 Chromosome 1, 201061333: 201061333
17 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 NCBI36 Chromosome 1, 199297084: 199297084
18 RYR1 NM_000540.2(RYR1): c.10119G> A (p.Val3373=) single nucleotide variant Conflicting interpretations of pathogenicity rs140689610 GRCh37 Chromosome 19, 39009954: 39009954
19 RYR1 NM_000540.2(RYR1): c.10119G> A (p.Val3373=) single nucleotide variant Conflicting interpretations of pathogenicity rs140689610 GRCh38 Chromosome 19, 38519314: 38519314
20 RYR1 NM_000540.2(RYR1): c.10188C> T (p.Asp3396=) single nucleotide variant Benign rs2229145 GRCh37 Chromosome 19, 39010023: 39010023
21 RYR1 NM_000540.2(RYR1): c.10188C> T (p.Asp3396=) single nucleotide variant Benign rs2229145 GRCh38 Chromosome 19, 38519383: 38519383
22 RYR1 NM_000540.2(RYR1): c.10218C> T (p.Tyr3406=) single nucleotide variant Benign rs41274330 GRCh37 Chromosome 19, 39010053: 39010053
23 RYR1 NM_000540.2(RYR1): c.10218C> T (p.Tyr3406=) single nucleotide variant Benign rs41274330 GRCh38 Chromosome 19, 38519413: 38519413
24 RYR1 NM_000540.2(RYR1): c.10687-10C> T single nucleotide variant Benign rs77592501 GRCh37 Chromosome 19, 39018277: 39018277
25 RYR1 NM_000540.2(RYR1): c.10687-10C> T single nucleotide variant Benign rs77592501 GRCh38 Chromosome 19, 38527637: 38527637
26 RYR1 NM_000540.2(RYR1): c.10687-7C> T single nucleotide variant Benign/Likely benign rs2960354 GRCh37 Chromosome 19, 39018280: 39018280
27 RYR1 NM_000540.2(RYR1): c.10687-7C> T single nucleotide variant Benign/Likely benign rs2960354 GRCh38 Chromosome 19, 38527640: 38527640
28 RYR1 NM_000540.2(RYR1): c.1077T> C (p.Ala359=) single nucleotide variant Benign rs10406027 GRCh37 Chromosome 19, 38939408: 38939408
29 RYR1 NM_000540.2(RYR1): c.1077T> C (p.Ala359=) single nucleotide variant Benign rs10406027 GRCh38 Chromosome 19, 38448768: 38448768
30 RYR1 NM_000540.2(RYR1): c.10941C> G (p.His3647Gln) single nucleotide variant Benign/Likely benign rs114351116 GRCh37 Chromosome 19, 39019242: 39019242
31 RYR1 NM_000540.2(RYR1): c.10941C> G (p.His3647Gln) single nucleotide variant Benign/Likely benign rs114351116 GRCh38 Chromosome 19, 38528602: 38528602
32 RYR1 NM_000540.2(RYR1): c.12741C> T (p.Ala4247=) single nucleotide variant Benign/Likely benign rs80039127 GRCh37 Chromosome 19, 39055715: 39055715
33 RYR1 NM_000540.2(RYR1): c.12741C> T (p.Ala4247=) single nucleotide variant Benign/Likely benign rs80039127 GRCh38 Chromosome 19, 38565075: 38565075
34 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh37 Chromosome 19, 39055853: 39055853
35 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh38 Chromosome 19, 38565213: 38565213
36 RYR1 NM_000540.2(RYR1): c.12990C> T (p.Thr4330=) single nucleotide variant Benign/Likely benign rs184450380 GRCh37 Chromosome 19, 39055964: 39055964
37 RYR1 NM_000540.2(RYR1): c.12990C> T (p.Thr4330=) single nucleotide variant Benign/Likely benign rs184450380 GRCh38 Chromosome 19, 38565324: 38565324
38 RYR1 NM_000540.2(RYR1): c.13317C> T (p.Ala4439=) single nucleotide variant Benign/Likely benign rs113579185 GRCh37 Chromosome 19, 39056291: 39056291
39 RYR1 NM_000540.2(RYR1): c.13317C> T (p.Ala4439=) single nucleotide variant Benign/Likely benign rs113579185 GRCh38 Chromosome 19, 38565651: 38565651
40 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh37 Chromosome 19, 39057626: 39057626
41 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh38 Chromosome 19, 38566986: 38566986
42 RYR1 NM_000540.2(RYR1): c.13671C> G (p.Ser4557=) single nucleotide variant Benign rs35959206 GRCh37 Chromosome 19, 39061258: 39061258
43 RYR1 NM_000540.2(RYR1): c.13671C> G (p.Ser4557=) single nucleotide variant Benign rs35959206 GRCh38 Chromosome 19, 38570618: 38570618
44 RYR1 NM_000540.2(RYR1): c.14256A> C (p.Thr4752=) single nucleotide variant Benign rs1468571 GRCh37 Chromosome 19, 39068641: 39068641
45 RYR1 NM_000540.2(RYR1): c.14256A> C (p.Thr4752=) single nucleotide variant Benign rs1468571 GRCh38 Chromosome 19, 38578001: 38578001
46 RYR1 NM_000540.2(RYR1): c.14505G> A (p.Gly4835=) single nucleotide variant Conflicting interpretations of pathogenicity rs118126378 GRCh37 Chromosome 19, 39070762: 39070762
47 RYR1 NM_000540.2(RYR1): c.14505G> A (p.Gly4835=) single nucleotide variant Conflicting interpretations of pathogenicity rs118126378 GRCh38 Chromosome 19, 38580122: 38580122
48 RYR1 NM_000540.2(RYR1): c.1668G> A (p.Ser556=) single nucleotide variant Benign rs2288888 GRCh37 Chromosome 19, 38946182: 38946182
49 RYR1 NM_000540.2(RYR1): c.1668G> A (p.Ser556=) single nucleotide variant Benign rs2288888 GRCh38 Chromosome 19, 38455542: 38455542
50 RYR1 NM_000540.2(RYR1): c.2286C> T (p.Pro762=) single nucleotide variant Benign rs3745847 GRCh37 Chromosome 19, 38949904: 38949904

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
12.74 CACNA1S CACNB1 CACNG1 CAV1 SCN4A
2 12.49 CACNA1S CACNB1 CACNG1 MAP4K1
3
Show member pathways
12.49 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
4
Show member pathways
12.45 CACNA1S CACNB1 CACNG1 RYR1
5
Show member pathways
12.25 CACNA1S CACNB1 CASQ1 RYR1
6
Show member pathways
12.19 CACNA1S CACNB1 CACNG1 RYR1
7 12.1 CACNA1S CACNB1 CACNG1
8
Show member pathways
11.95 CACNA1S CACNB1 CACNG1
9
Show member pathways
11.95 CACNA1S CACNB1 CACNG1 CAV1
10
Show member pathways
11.78 CACNA1S CACNB1 CACNG1
11 11.71 CACNA1S CACNB1 CACNG1 RYR1
12 11.47 CACNA1S CACNB1 CACNG1
13 11.33 CACNA1S CACNB1 CACNG1
14
Show member pathways
11.33 CACNA1S CACNB1 CACNG1 SCN4A
15 11.13 CACNA1S CACNB1
16 10.95 CACNA1S CACNB1 CACNG1 RYR1
17 10 CACNA1S CACNB1 CACNG1 RYR1

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 sarcoplasmic reticulum membrane GO:0033017 9.43 CASQ1 RYR1
2 voltage-gated calcium channel complex GO:0005891 9.43 CACNA1S CACNB1 CACNG1
3 smooth endoplasmic reticulum GO:0005790 9.4 CASQ1 RYR1
4 L-type voltage-gated calcium channel complex GO:1990454 9.37 CACNA1S CACNG1
5 I band GO:0031674 9.33 CACNA1S CASQ1 RYR1
6 terminal cisterna GO:0014802 9.32 CASQ1 RYR1
7 T-tubule GO:0030315 9.26 CACNA1S CACNG1 CASQ1 RYR1
8 sarcolemma GO:0042383 9.1 CACNA1S CACNB1 CACNG1 CASQ1 CAV1 RYR1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.77 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
2 muscle contraction GO:0006936 9.58 CACNA1S RYR1 SCN4A
3 regulation of cytosolic calcium ion concentration GO:0051480 9.48 CAV1 RYR1
4 regulation of cardiac conduction GO:1903779 9.46 CASQ1 RYR1
5 regulation of ion transmembrane transport GO:0034765 9.46 CACNA1S CACNB1 CACNG1 SCN4A
6 mammary gland development GO:0030879 9.43 CAV1 NME1
7 cellular response to caffeine GO:0071313 9.32 CACNA1S RYR1
8 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.26 CACNB1 CACNG1
9 calcium ion transmembrane transport GO:0070588 9.26 CACNA1S CACNB1 CACNG1 RYR1
10 calcium ion transport GO:0006816 9.02 CACNA1S CACNB1 CACNG1 CAV1 RYR1

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

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.26 CACNA1S CACNB1 CACNG1 RYR1
2 high voltage-gated calcium channel activity GO:0008331 9.16 CACNA1S CACNB1
3 voltage-gated calcium channel activity GO:0005245 8.92 CACNA1S CACNB1 CACNG1 RYR1

Sources for Malignant Hyperthermia Susceptibility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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