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 71
Hyperthermia, Malignant, Susceptibility 39
Malignant Hyperpyrexia 24

Characteristics:

GeneReviews:

24
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].

External Ids:

UMLS 71 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, 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 testes and skeletal muscle, 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 89)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 31.1 RYR1 CACNA1S
2 central core myopathy 30.2 RYR1 CASQ1 CACNA1S
3 hyperkalemic periodic paralysis 30.2 SCN4A CACNA1S
4 graves disease 1 30.0 SCN4A CACNA1S
5 brody myopathy 30.0 RYR1 CASQ1
6 myopathy, congenital, bailey-bloch 29.9 STAC3 RYR1 CACNA1S
7 myopathy 29.8 STAC3 SCN4A RYR1 CASQ1 CACNA1S
8 periodic paralysis 29.8 SCN4A RYR1 CACNA1S
9 neuromuscular disease 29.5 SCN4A RYR1 CACNA1S
10 ptosis 29.3 STAC3 SCN4A RYR1
11 hypokalemic periodic paralysis, type 1 29.3 SCN4A RYR1 CACNG1 CACNA1S
12 isolated elevated serum creatine phosphokinase levels 28.8 SCN4A RYR1 CAV1 CASQ1
13 malignant hyperthermia 27.9 STAC3 SCN4A RYR1 NME1 MHS6 MHS4
14 malignant hyperthermia 1 12.5
15 malignant hyperthermia 5 12.1
16 malignant hyperthermia 2 12.1
17 malignant hyperthermia 3 12.1
18 malignant hyperthermia 4 12.1
19 malignant hyperthermia 6 12.1
20 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.5
21 congenital structural myopathy 10.3 RYR1 CACNA1S
22 glycogen storage disease v 10.3 RYR1 CACNA1S
23 muscular dystrophy 10.3
24 myopathy, congenital 10.2
25 metabolic acidosis 10.2
26 neuroleptic malignant syndrome 10.2
27 mitochondrial myopathy 10.2
28 skeletal muscle disease 10.1 RYR1 CASQ1
29 atrophic muscular disease 10.1 RYR1 CASQ1
30 periodic paralyses 10.1 SCN4A CACNA1S
31 sudden infant death syndrome 10.1
32 acute kidney failure 10.1
33 myotonia congenita 10.1 SCN4A CACNA1S
34 myotonic disease 10.1 SCN4A RYR1
35 andersen cardiodysrhythmic periodic paralysis 10.0 SCN4A CACNA1S
36 triiodothyronine receptor auxiliary protein 10.0
37 muscular dystrophy, becker type 10.0
38 ventricular fibrillation, paroxysmal familial, 1 10.0
39 myopathy, proximal, with ophthalmoplegia 10.0
40 myopathy due to myoadenylate deaminase deficiency 10.0
41 pain agnosia 10.0
42 myoglobinuria 10.0
43 posttransplant acute limbic encephalitis 10.0
44 paramyotonia congenita of von eulenburg 10.0 SCN4A CACNA1S
45 myopathy, tubular aggregate, 1 10.0 RYR1 CASQ1
46 familial periodic paralysis 10.0 SCN4A RYR1 CACNA1S
47 noonan syndrome 1 9.9
48 schwartz-jampel syndrome, type 1 9.9
49 stroke, ischemic 9.9
50 status epilepticus 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 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 71 / NDF-RT 50 :


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
Testes, Skeletal Muscle

Publications for Malignant Hyperthermia Susceptibility

Articles related to Malignant Hyperthermia Susceptibility:

(show top 50) (show all 361)
# Title Authors PMID Year
1
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data. 24 61
31301762 2019
2
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. 61 24
30168660 2018
3
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. 24 61
28326467 2017
4
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. 24 61
26188342 2015
5
Using exome data to identify malignant hyperthermia susceptibility mutations. 61 24
24195946 2013
6
Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases. 61 24
21376345 2011
7
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. 61 24
19807743 2009
8
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. 61 24
17122579 2006
9
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. 61 24
15731587 2005
10
Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? 61 24
12700608 2003
11
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. 61 24
11741831 2001
12
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. 61 24
11525881 2001
13
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 24 61
11389482 2001
14
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. 61 24
9199552 1997
15
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 24 61
9030597 1997
16
A clinical grading scale to predict malignant hyperthermia susceptibility. 24 61
8024130 1994
17
An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations. 24
31206373 2019
18
Malignant hyperthermia. 24
30459030 2018
19
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. 24
28902675 2018
20
Timing, rates and spectra of human germline mutation. 24
26656846 2016
21
Malignant hyperthermia: a review. 24
26238698 2015
22
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 24
23736855 2013
23
AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation. 24
22231556 2012
24
Special article: Creation of a guide for the transfer of care of the malignant hyperthermia patient from ambulatory surgery centers to receiving hospital facilities. 24
22052978 2012
25
Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families. 24
21918424 2011
26
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. 24
21795085 2011
27
Excess comorbidities associated with malignant hyperthermia diagnosis in pediatric hospital discharge records. 24
21722230 2011
28
Consequences of succinylcholine administration to patients using statins. 24
21606827 2011
29
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. 24
21455645 2011
30
Complications associated with the administration of dantrolene 1987 to 2006: a report from the North American Malignant Hyperthermia Registry of the Malignant Hyperthermia Association of the United States. 24
21372281 2011
31
Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. 24
20566647 2010
32
Ryanodine receptor channelopathies. 24
20179962 2010
33
Administration of ondansetron is associated with lethal outcome. 24
20439600 2010
34
Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006. 24
20081135 2010
35
Postmortem molecular screening for mutations in ryanodine receptor type 1 (RYR1) gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome. 24
19931341 2010
36
The myotonias and susceptibility to malignant hyperthermia. 24
19762732 2009
37
Prevalence of malignant hyperthermia due to anesthesia in New York State, 2001-2005. 24
19762744 2009
38
Genetic variation in RYR1 and malignant hyperthermia phenotypes. 24
19648156 2009
39
The relationship between exertional heat illness, exertional rhabdomyolysis, and malignant hyperthermia. 24
19617585 2009
40
Trends and outcomes of malignant hyperthermia in the United States, 2000 to 2005. 24
19104175 2009
41
Cardiac arrests and deaths associated with malignant hyperthermia in north america from 1987 to 2006: a report from the north american malignant hyperthermia registry of the malignant hyperthermia association of the United States. 24
18362591 2008
42
RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. 24
18394989 2008
43
Duchenne muscular dystrophy: an old anesthesia problem revisited. 24
18184239 2008
44
Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations. 24
17942409 2007
45
Mutations in RYR1 in malignant hyperthermia and central core disease. 24
16917943 2006
46
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. 24
16835904 2006
47
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. 24
16284304 2006
48
Malignant hyperthermia: update on susceptibility testing. 24
15956637 2005
49
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia. 24
15221887 2004
50
Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. 24
12732639 2003

Variations for Malignant Hyperthermia Susceptibility

ClinVar genetic disease variations for Malignant Hyperthermia Susceptibility:

6 (show top 50) (show all 226) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
2 RYR1 NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)SNV Pathogenic/Likely pathogenic 133029 rs193922764 19:38942482-38942482 19:38451842-38451842
3 RYR1 NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)SNV Likely pathogenic 133098 rs146876145 19:39076780-39076780 19:38586140-38586140
4 RYR1 NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)SNV drug response 133202 rs193922816 19:38991282-38991282 19:38500642-38500642
5 RYR1 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)SNV drug response 12964 rs118192172 19:38948185-38948185 19:38457545-38457545
6 RYR1 NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)SNV drug response 12970 rs121918593 19:38990633-38990633 19:38499993-38499993
7 RYR1 NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)SNV drug response 12971 rs28933397 19:38991294-38991294 19:38500654-38500654
8 CACNA1S NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=)SNV Conflicting interpretations of pathogenicity 69079 rs150020550 1:201030461-201030461 1:201061333-201061333
9 RYR1 NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg)SNV Conflicting interpretations of pathogenicity 93269 rs137933390 19:38965975-38965975 19:38475335-38475335
10 RYR1 NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser)SNV Conflicting interpretations of pathogenicity 159852 rs76537615 19:38974116-38974116 19:38483476-38483476
11 CACNA1S NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)SNV Conflicting interpretations of pathogenicity 161208 rs145910245 1:201020165-201020165 1:201051037-201051037
12 RYR1 NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)SNV Conflicting interpretations of pathogenicity 161365 rs200950673 19:39008026-39008026 19:38517386-38517386
13 RYR1 NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)SNV Conflicting interpretations of pathogenicity 133175 rs147213895 19:38989881-38989881 19:38499241-38499241
14 RYR1 NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)SNV Conflicting interpretations of pathogenicity 93252 rs150396398 19:39057626-39057626 19:38566986-38566986
15 CACNA1S NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)SNV Conflicting interpretations of pathogenicity 199686 rs141204958 1:201061111-201061111 1:201091983-201091983
16 RYR1 NM_000540.2(RYR1):c.9262G>A (p.Val3088Met)SNV Conflicting interpretations of pathogenicity 201158 rs145044872 19:39002913-39002913 19:38512273-38512273
17 RYR1 NM_000540.2(RYR1):c.12588C>T (p.Ile4196=)SNV Conflicting interpretations of pathogenicity 212092 rs61739895 19:39052058-39052058 19:38561418-38561418
18 CACNA1S NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)SNV Conflicting interpretations of pathogenicity 225282 rs116347156 1:201031133-201031133 1:201062005-201062005
19 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)SNV Conflicting interpretations of pathogenicity 133012 rs193922839 19:39025415-39025415 19:38534775-38534775
20 RYR1 NM_000540.2(RYR1):c.3381C>T (p.Arg1127=)SNV Conflicting interpretations of pathogenicity 256491 rs200780880 19:38958452-38958452 19:38467812-38467812
21 RYR1 NM_000540.2(RYR1):c.4294-4C>TSNV Conflicting interpretations of pathogenicity 256506 rs368108496 19:38968346-38968346 19:38477706-38477706
22 RYR1 NM_000540.2(RYR1):c.10048C>A (p.Arg3350=)SNV Conflicting interpretations of pathogenicity 256386 rs200355885 19:39009883-39009883 19:38519243-38519243
23 CACNA1S NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)SNV Conflicting interpretations of pathogenicity 279727 rs150590855 1:201047133-201047133 1:201078005-201078005
24 RYR1 NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu)SNV Conflicting interpretations of pathogenicity 287319 rs867851900 19:39056343-39056343 19:38565703-38565703
25 CACNA1S NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)SNV Conflicting interpretations of pathogenicity 294708 rs146696748 1:201012449-201012449 1:201043321-201043321
26 CACNA1S NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)SNV Conflicting interpretations of pathogenicity 294710 rs200848930 1:201012575-201012575 1:201043447-201043447
27 CACNA1S NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His)SNV Conflicting interpretations of pathogenicity 294715 rs764330337 1:201016365-201016365 1:201047237-201047237
28 CACNA1S NM_000069.3(CACNA1S):c.3796-14C>TSNV Conflicting interpretations of pathogenicity 294727 rs377210987 1:201022416-201022416 1:201053288-201053288
29 CACNA1S NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=)SNV Conflicting interpretations of pathogenicity 294737 rs138328785 1:201031619-201031619 1:201062491-201062491
30 CACNA1S NM_000069.3(CACNA1S):c.2754G>A (p.Val918=)SNV Conflicting interpretations of pathogenicity 294739 rs150708636 1:201035065-201035065 1:201065937-201065937
31 CACNA1S NM_000069.3(CACNA1S):c.3861+14G>TSNV Conflicting interpretations of pathogenicity 294726 rs200654730 1:201022323-201022323 1:201053195-201053195
32 CACNA1S NM_000069.3(CACNA1S):c.1948+13G>CSNV Conflicting interpretations of pathogenicity 294751 rs538625530 1:201044610-201044610 1:201075482-201075482
33 CACNA1S NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)SNV Conflicting interpretations of pathogenicity 294729 rs148870919 1:201023671-201023671 1:201054543-201054543
34 CACNA1S NM_000069.3(CACNA1S):c.1949-6G>ASNV Conflicting interpretations of pathogenicity 294749 rs373698107 1:201043754-201043754 1:201074626-201074626
35 CACNA1S NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)SNV Conflicting interpretations of pathogenicity 294767 rs35521793 1:201052331-201052331 1:201083203-201083203
36 CACNA1S NM_000069.3(CACNA1S):c.909T>C (p.Asp303=)SNV Conflicting interpretations of pathogenicity 294771 rs760398733 1:201057049-201057049 1:201087921-201087921
37 CACNA1S NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr)SNV Conflicting interpretations of pathogenicity 294760 rs763794604 1:201046197-201046197 1:201077069-201077069
38 CACNA1S NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=)SNV Conflicting interpretations of pathogenicity 294718 rs200538716 1:201017714-201017714 1:201048586-201048586
39 CACNA1S NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp)SNV Conflicting interpretations of pathogenicity 294725 rs780390034 1:201021734-201021734 1:201052606-201052606
40 CACNA1S NM_000069.3(CACNA1S):c.2361-11C>TSNV Conflicting interpretations of pathogenicity 294747 rs376279583 1:201038740-201038740 1:201069612-201069612
41 CACNA1S NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)SNV Conflicting interpretations of pathogenicity 294752 rs760246258 1:201044626-201044626 1:201075498-201075498
42 CACNA1S NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)SNV Conflicting interpretations of pathogenicity 294758 rs377459546 1:201046130-201046130 1:201077002-201077002
43 CACNA1S NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=)SNV Conflicting interpretations of pathogenicity 294764 rs373712202 1:201047156-201047156 1:201078028-201078028
44 CACNA1S NM_000069.3(CACNA1S):c.*163G>ASNV Conflicting interpretations of pathogenicity 294700 rs200126670 1:201008796-201008796 1:201039668-201039668
45 CACNA1S NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)SNV Conflicting interpretations of pathogenicity 294768 rs146136274 1:201052382-201052382 1:201083254-201083254
46 CACNA1S NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)SNV Conflicting interpretations of pathogenicity 294772 rs138205421 1:201058397-201058397 1:201089269-201089269
47 CACNA1S NM_000069.3(CACNA1S):c.398+3G>ASNV Conflicting interpretations of pathogenicity 294779 rs764710968 1:201063007-201063007 1:201093879-201093879
48 CACNA1S NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=)SNV Conflicting interpretations of pathogenicity 294713 rs763069723 1:201013501-201013501 1:201044373-201044373
49 CACNA1S NM_000069.3(CACNA1S):c.369T>C (p.Asn123=)SNV Conflicting interpretations of pathogenicity 294780 rs148680317 1:201063039-201063039 1:201093911-201093911
50 CACNA1S NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys)SNV Conflicting interpretations of pathogenicity 294714 rs148273582 1:201013506-201013506 1:201044378-201044378

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
12.39 RYR1 CACNG1 CACNB1 CACNA1S
4
Show member pathways
12.25 RYR1 CASQ1 CACNB1 CACNA1S
5
Show member pathways
12.17 RYR1 CACNG1 CACNB1 CACNA1S
6 12.1 CACNG1 CACNB1 CACNA1S
7
Show member pathways
12.02 RYR1 CASQ1 CACNA1S
8
Show member pathways
11.98 CACNG1 CACNB1 CACNA1S
9
Show member pathways
11.95 CAV1 CACNG1 CACNB1 CACNA1S
10
Show member pathways
11.88 CACNG1 CACNB1 CACNA1S
11
Show member pathways
11.8 CACNG1 CACNB1 CACNA1S
12 11.71 RYR1 CACNG1 CACNB1 CACNA1S
13 11.55 CACNG1 CACNB1 CACNA1S
14
Show member pathways
11.33 SCN4A CACNG1 CACNB1 CACNA1S
15 11.13 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 voltage-gated calcium channel complex GO:0005891 9.46 STAC3 CACNG1 CACNB1 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 T-tubule GO:0030315 9.35 STAC3 RYR1 CASQ1 CACNG1 CACNA1S
7 terminal cisterna GO:0014802 9.32 RYR1 CASQ1
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 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 SCN4A RYR1 CACNG1 CACNB1 CACNA1S
2 muscle contraction GO:0006936 9.61 SCN4A RYR1 CACNA1S
3 lactation GO:0007595 9.51 NME1 CAV1
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 regulation of ion transmembrane transport GO:0034765 9.46 SCN4A CACNG1 CACNB1 CACNA1S
8 cardiac conduction GO:0061337 9.43 CACNG1 CACNB1 CACNA1S
9 cellular response to caffeine GO:0071313 9.37 RYR1 CACNA1S
10 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.32 CACNG1 CACNB1
11 calcium ion transmembrane transport GO:0070588 9.26 RYR1 CACNG1 CACNB1 CACNA1S
12 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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