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
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...

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 liver, 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 41)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 30.7 CACNA1S RYR1
2 central core myopathy 30.5 CACNA1S RYR1
3 malignant hyperthermia 26.0 CACNA1S CACNB1 CACNG1 CASQ1 MHS2 MHS3
4 malignant hyperthermia 1 12.0
5 malignant hyperthermia 5 11.5
6 malignant hyperthermia 2 11.5
7 malignant hyperthermia 3 11.5
8 malignant hyperthermia 4 11.5
9 malignant hyperthermia 6 11.5
10 malignant hyperthermia of anesthesia 10.7 CACNA1S RYR1
11 native american myopathy 10.6 CACNA1S RYR1
12 periodic paralyses 10.4 CACNA1S SCN4A
13 hyperkalemic periodic paralysis 10.3 CACNA1S SCN4A
14 myopathy 10.2
15 graves disease 1 10.2 CACNA1S SCN4A
16 multiminicore disease 10.2 LOC107985290 MAP4K1 RYR1
17 familial periodic paralysis 10.2 CACNA1S RYR1 SCN4A
18 hypokalemic periodic paralysis, type 1 10.1 CACNA1S RYR1 SCN4A
19 myotonic disease 10.1 RYR1 SCN4A
20 rigidity and multifocal seizure syndrome, lethal neonatal 10.0
21 myotonia congenita 10.0 CACNA1S SCN4A
22 myopathy due to myoadenylate deaminase deficiency 9.9
23 neuroleptic malignant syndrome 9.9
24 mitochondrial disorders 9.9
25 apnea, obstructive sleep 9.8
26 mitochondrial myopathy 9.8
27 myopathy, congenital 9.8
28 brody myopathy 9.8
29 brittle bone disorder 9.8
30 rippling muscle disease 2 9.8
31 motor neuron disease 9.8
32 sleep apnea 9.8
33 scoliosis 9.8
34 ptosis 9.8
35 congenital ptosis 9.8
36 thrombosis 9.8
37 placenta praevia 9.8
38 mitochondrial metabolism disease 9.8
39 neuronitis 9.8
40 muscular dystrophy 9.8
41 metal metabolism disorder 9.8 CACNA1S 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, Liver, Placenta

Publications for Malignant Hyperthermia Susceptibility

Articles related to Malignant Hyperthermia Susceptibility:

(show top 50) (show all 247)
# Title Authors Year
1
Voltage modulates halothane-triggered Ca<sup>2+</sup>release in malignant hyperthermia-susceptible muscle. ( 29247050 )
2018
2
Efficacy of Malignant Hyperthermia Association of the United States-Recommended Methods of Preparation for Malignant Hyperthermia-Susceptible Patients Using DrAoger Zeus Anesthesia Workstations and Associated Costs. ( 29847377 )
2018
3
CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population: Erratum. ( 29443706 )
2018
4
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
5
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
6
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. ( 28952030 )
2017
7
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
8
A Primer for Diagnosing and Managing Malignant Hyperthermia Susceptibility. ( 28926348 )
2017
9
Evidence of malignant hyperthermia in patients administered triggering agents before malignant hyperthermia susceptibility identified: missed opportunities prior to diagnosis. ( 29137581 )
2017
10
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
11
Malignant Hyperthermia Susceptibility and Related Diseases. ( 28902673 )
2017
12
Skeletal Muscle Metabolic Dysfunction in Patients With Malignant Hyperthermia Susceptibility. ( 28682948 )
2017
13
Functional and Structural Characterization of a Novel Malignant Hyperthermia-susceptible variant of DHPR-I^<sub>1a</sub>subunit (CACNB1). ( 29212769 )
2017
14
Long term oral Dantrolene Improved Muscular Symptoms in a Malignant Hyperthermia Susceptible Individual. ( 27854207 )
2016
15
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals. ( 27646467 )
2016
16
A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient. ( 27555149 )
2016
17
Effect of caffeine on intrinsic mechanical properties of normal and malignant hyperthermia-susceptible muscle. ( 25619865 )
2015
18
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. ( 26691049 )
2015
19
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. ( 26188342 )
2015
20
Using a Vulnerability Theoretical Model to Assess the Malignant Hyperthermia Susceptible Population: Implications for Advanced Practice Emergency Nurses. ( 26218487 )
2015
21
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. ( 25958340 )
2015
22
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. ( 25086907 )
2014
23
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. ( 23842196 )
2014
24
Manufacturer's response to Bilmen and Gillies' manuscript entitled &amp;quot;Clarifying the role of activated charcoal filters in preparing an anaesthetic workstation for malignant hyperthermia-susceptible patients&amp;quot;. ( 25342416 )
2014
25
The sevoflurane washout profile of seven recent anesthesia workstations for malignant hyperthermia-susceptible adults and infants: a bench test study. ( 24806140 )
2014
26
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. ( 25614869 )
2014
27
Analysis of histomorphology in malignant hyperthermia-susceptible patients. ( 23888335 )
2013
28
Myopathic changes in malignant hyperthermia-susceptible patients. ( 23897489 )
2013
29
A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. ( 24455316 )
2013
30
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. ( 23558838 )
2013
31
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. ( 23957432 )
2013
32
Using exome data to identify malignant hyperthermia susceptibility mutations. ( 24195946 )
2013
33
Activated charcoal adsorption of volatile anesthetic agents for anesthesia machine preparation of malignant hyperthermia susceptible patients. ( 23923663 )
2013
34
CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. ( 23460944 )
2013
35
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. ( 22976939 )
2013
36
Core myopathies and malignant hyperthermia susceptibility: a review. ( 23617272 )
2013
37
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. ( 23476141 )
2013
38
Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. ( 22431093 )
2012
39
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
40
A study of a family with the skeletal muscle RYR1 mutation (c.7354C&amp;gt;T) associated with central core myopathy and malignant hyperthermia susceptibility. ( 22030266 )
2012
41
Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients. ( 22577915 )
2012
42
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. ( 22547813 )
2012
43
A medical student with malignant hyperthermia susceptibility. ( 22417041 )
2012
44
3,4-Methylenedioxymethamphetamine (Ecstasy) increases the sensitivity of the contractile apparatus to calcium ions in both malignant hyperthermia-susceptible and normal skeletal muscle fibres. ( 22089516 )
2012
45
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. ( 22139840 )
2012
46
Ondansetron-induced muscular contractures in malignant hyperthermia-susceptible individuals. ( 22696611 )
2012
47
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. ( 21791993 )
2011
48
Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. ( 21156754 )
2011
49
Sevoflurane as a potential replacement for halothane in diagnostic testing for malignant hyperthermia susceptibility: results of a preliminary study. ( 21730923 )
2011
50
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: when are they really clean? ( 21791992 )
2011

Variations for Malignant Hyperthermia Susceptibility

ClinVar genetic disease variations for Malignant Hyperthermia Susceptibility:

6
(show top 50) (show all 796)
# 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.1201C> T (p.Arg401Cys) single nucleotide variant Likely pathogenic rs193922764 GRCh38 Chromosome 19, 38451842: 38451842
10 RYR1 NM_000540.2(RYR1): c.1201C> T (p.Arg401Cys) single nucleotide variant Likely pathogenic rs193922764 GRCh37 Chromosome 19, 38942482: 38942482
11 RYR1 NM_000540.2(RYR1): c.14918C> T (p.Pro4973Leu) single nucleotide variant Likely pathogenic rs146876145 GRCh38 Chromosome 19, 38586140: 38586140
12 RYR1 NM_000540.2(RYR1): c.14918C> T (p.Pro4973Leu) single nucleotide variant Likely pathogenic rs146876145 GRCh37 Chromosome 19, 39076780: 39076780
13 RYR1 NM_000540.2(RYR1): c.7360C> T (p.Arg2454Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922816 GRCh38 Chromosome 19, 38500642: 38500642
14 RYR1 NM_000540.2(RYR1): c.7360C> T (p.Arg2454Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922816 GRCh37 Chromosome 19, 38991282: 38991282
15 RYR1 NM_000540.2(RYR1): c.897G> C (p.Val299=) single nucleotide variant Benign/Likely benign rs76854339 GRCh37 Chromosome 19, 38939091: 38939091
16 RYR1 NM_000540.2(RYR1): c.897G> C (p.Val299=) single nucleotide variant Benign/Likely benign rs76854339 GRCh38 Chromosome 19, 38448451: 38448451
17 RYR1 NM_000540.2(RYR1): c.906C> T (p.Asp302=) single nucleotide variant Benign/Likely benign rs145943283 GRCh37 Chromosome 19, 38939100: 38939100
18 RYR1 NM_000540.2(RYR1): c.906C> T (p.Asp302=) single nucleotide variant Benign/Likely benign rs145943283 GRCh38 Chromosome 19, 38448460: 38448460
19 RYR1 NM_000540.2(RYR1): c.1577-6C> G single nucleotide variant Benign/Likely benign rs61586345 GRCh37 Chromosome 19, 38946085: 38946085
20 RYR1 NM_000540.2(RYR1): c.1577-6C> G single nucleotide variant Benign/Likely benign rs61586345 GRCh38 Chromosome 19, 38455445: 38455445
21 RYR1 NM_000540.2(RYR1): c.2091C> T (p.Ala697=) single nucleotide variant Conflicting interpretations of pathogenicity rs138704724 GRCh37 Chromosome 19, 38948856: 38948856
22 RYR1 NM_000540.2(RYR1): c.2091C> T (p.Ala697=) single nucleotide variant Conflicting interpretations of pathogenicity rs138704724 GRCh38 Chromosome 19, 38458216: 38458216
23 RYR1 NM_000540.2(RYR1): c.2919C> T (p.His973=) single nucleotide variant Conflicting interpretations of pathogenicity rs139363830 GRCh37 Chromosome 19, 38956779: 38956779
24 RYR1 NM_000540.2(RYR1): c.2919C> T (p.His973=) single nucleotide variant Conflicting interpretations of pathogenicity rs139363830 GRCh38 Chromosome 19, 38466139: 38466139
25 RYR1 NM_000540.2(RYR1): c.3876C> A (p.Leu1292=) single nucleotide variant Benign/Likely benign rs143750836 GRCh37 Chromosome 19, 38964127: 38964127
26 RYR1 NM_000540.2(RYR1): c.3876C> A (p.Leu1292=) single nucleotide variant Benign/Likely benign rs143750836 GRCh38 Chromosome 19, 38473487: 38473487
27 RYR1 NM_000540.2(RYR1): c.4055C> G (p.Ala1352Gly) single nucleotide variant Benign/Likely benign rs112105381 GRCh37 Chromosome 19, 38964306: 38964306
28 RYR1 NM_000540.2(RYR1): c.4055C> G (p.Ala1352Gly) single nucleotide variant Benign/Likely benign rs112105381 GRCh38 Chromosome 19, 38473666: 38473666
29 RYR1 NM_000540.2(RYR1): c.4894C> T (p.Pro1632Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76537615 GRCh37 Chromosome 19, 38974116: 38974116
30 RYR1 NM_000540.2(RYR1): c.4894C> T (p.Pro1632Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76537615 GRCh38 Chromosome 19, 38483476: 38483476
31 RYR1 NM_000540.2(RYR1): c.5622A> G (p.Glu1874=) single nucleotide variant Benign/Likely benign rs35021937 GRCh37 Chromosome 19, 38979891: 38979891
32 RYR1 NM_000540.2(RYR1): c.5622A> G (p.Glu1874=) single nucleotide variant Benign/Likely benign rs35021937 GRCh38 Chromosome 19, 38489251: 38489251
33 RYR1 NM_000540.2(RYR1): c.6262G> A (p.Glu2088Lys) single nucleotide variant Uncertain significance rs587784378 GRCh37 Chromosome 19, 38983264: 38983264
34 RYR1 NM_000540.2(RYR1): c.6262G> A (p.Glu2088Lys) single nucleotide variant Uncertain significance rs587784378 GRCh38 Chromosome 19, 38492624: 38492624
35 RYR1 NM_000540.2(RYR1): c.7281C> T (p.Ala2427=) single nucleotide variant Benign/Likely benign rs77310009 GRCh37 Chromosome 19, 38990614: 38990614
36 RYR1 NM_000540.2(RYR1): c.7281C> T (p.Ala2427=) single nucleotide variant Benign/Likely benign rs77310009 GRCh38 Chromosome 19, 38499974: 38499974
37 RYR1 NM_000540.2(RYR1): c.8068-14C> T single nucleotide variant Benign/Likely benign rs57376136 GRCh37 Chromosome 19, 38995374: 38995374
38 RYR1 NM_000540.2(RYR1): c.8068-14C> T single nucleotide variant Benign/Likely benign rs57376136 GRCh38 Chromosome 19, 38504734: 38504734
39 RYR1 NM_000540.2(RYR1): c.9882C> T (p.Ser3294=) single nucleotide variant Benign/Likely benign rs142610625 GRCh37 Chromosome 19, 39008195: 39008195
40 RYR1 NM_000540.2(RYR1): c.9882C> T (p.Ser3294=) single nucleotide variant Benign/Likely benign rs142610625 GRCh38 Chromosome 19, 38517555: 38517555
41 RYR1 NM_000540.2(RYR1): c.10259+7G> A single nucleotide variant Benign/Likely benign rs143752962 GRCh37 Chromosome 19, 39010101: 39010101
42 RYR1 NM_000540.2(RYR1): c.10259+7G> A single nucleotide variant Benign/Likely benign rs143752962 GRCh38 Chromosome 19, 38519461: 38519461
43 RYR1 NM_000540.2(RYR1): c.11141+7A> G single nucleotide variant Benign/Likely benign rs78350770 GRCh37 Chromosome 19, 39019704: 39019704
44 RYR1 NM_000540.2(RYR1): c.11141+7A> G single nucleotide variant Benign/Likely benign rs78350770 GRCh38 Chromosome 19, 38529064: 38529064
45 RYR1 NM_000540.2(RYR1): c.11625G> A (p.Ala3875=) single nucleotide variant Benign/Likely benign rs61729397 GRCh37 Chromosome 19, 39028536: 39028536
46 RYR1 NM_000540.2(RYR1): c.11625G> A (p.Ala3875=) single nucleotide variant Benign/Likely benign rs61729397 GRCh38 Chromosome 19, 38537896: 38537896
47 RYR1 NM_000540.2(RYR1): c.12094+11A> G single nucleotide variant Benign rs73933018 GRCh37 Chromosome 19, 39037177: 39037177
48 RYR1 NM_000540.2(RYR1): c.12094+11A> G single nucleotide variant Benign rs73933018 GRCh38 Chromosome 19, 38546537: 38546537
49 RYR1 NM_000540.2(RYR1): c.12624+14C> T single nucleotide variant Benign rs75797287 GRCh37 Chromosome 19, 39052108: 39052108
50 RYR1 NM_000540.2(RYR1): c.12624+14C> T single nucleotide variant Benign rs75797287 GRCh38 Chromosome 19, 38561468: 38561468

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 16)
# 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 12.09 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
Show member pathways
11.33 CACNA1S CACNB1 CACNG1 SCN4A
14 11.12 CACNA1S CACNB1
15 10.95 CACNA1S CACNB1 CACNG1 RYR1
16 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 T-tubule GO:0030315 9.43 CACNA1S CASQ1 RYR1
2 sarcoplasmic reticulum membrane GO:0033017 9.4 CASQ1 RYR1
3 smooth endoplasmic reticulum GO:0005790 9.37 CASQ1 RYR1
4 voltage-gated calcium channel complex GO:0005891 9.33 CACNA1S CACNB1 CACNG1
5 terminal cisterna GO:0014802 9.32 CASQ1 RYR1
6 I band GO:0031674 9.13 CACNA1S CASQ1 RYR1
7 sarcolemma GO:0042383 9.02 CACNA1S CACNB1 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 9.8 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
2 regulation of ion transmembrane transport GO:0034765 9.56 CACNA1S CACNB1 CACNG1 SCN4A
3 cardiac conduction GO:0061337 9.5 CACNA1S CACNB1 CACNG1
4 regulation of cytosolic calcium ion concentration GO:0051480 9.48 CAV1 RYR1
5 mammary gland development GO:0030879 9.46 CAV1 NME1
6 calcium ion transmembrane transport GO:0070588 9.46 CACNA1S CACNB1 CACNG1 RYR1
7 membrane depolarization during action potential GO:0086010 9.43 CACNA1S SCN4A
8 cellular response to caffeine GO:0071313 9.37 CACNA1S RYR1
9 muscle contraction GO:0006936 9.26 CACNA1S CACNG1 RYR1 SCN4A
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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