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MHS1
MCID: MLG147
MIFTS: 45

Malignant Hyperthermia 1 (MHS1)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Malignant Hyperthermia 1

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MalaCards integrated aliases for Malignant Hyperthermia 1:

Name: Malignant Hyperthermia 1 57 73
Malignant Hyperthermia, Susceptibility to, 1 57 29 6 17
King Denborough Syndrome 20 29 6 71
King-Denborough Syndrome 57 74 58
Malignant Hyperthermia Susceptibility Type 1 74 71
Malignant Hyperthermia Susceptibility 1 57 13
Hyperthermia of Anesthesia 57 6
Mhs1 57 73
Anesthetic-Induced Malignant Hyperpyrexia in Children 20
Hyperthermia, Malignant, Susceptibility, Type 1 39
Malignant Hyperpyrexia Due to Anesthesia 71
Hyperpyrexia, Malignant; Mh 57
Koussef-Nichols Syndrome 58
Hyperpyrexia, Malignant 57
King Syndrome 20
Mhs 57
Mh 57

Characteristics:

Orphanet epidemiological data:

58
king-denborough syndrome
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
heterogeneous disorder
precipitated by general anesthesia
elevated body temperatures to 42 degrees celsius
incidence of mh in anesthetized children is 1 in 15,000
incidence of mh in anesthetized adults is 1 in 50,000-100,000


HPO:

31
malignant hyperthermia 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 145600
OMIM Phenotypic Series 57 PS145600
MESH via Orphanet 45 C536883
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C1840365
Orphanet 58 ORPHA99741
UMLS 71 C0024591 C1840365 C2930980
Sources

Summaries for Malignant Hyperthermia 1

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UniProtKB/Swiss-Prot : 73 Malignant hyperthermia 1: Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively).

MalaCards based summary : Malignant Hyperthermia 1, also known as malignant hyperthermia, susceptibility to, 1, is related to malignant hyperthermia susceptibility and malignant hyperthermia, and has symptoms including fever, pain, postoperative and postoperative nausea and vomiting. An important gene associated with Malignant Hyperthermia 1 is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle, and related phenotypes are hypotension and fever

GARD : 20 The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance. Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core disease.

OMIM® : 57 Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). (145600) (Updated 05-Mar-2021)

Wikipedia : 74 Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular... more...

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Related Diseases for Malignant Hyperthermia 1

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Diseases in the Malignant Hyperthermia family:

Malignant Hyperthermia 1 Malignant Hyperthermia 2
Malignant Hyperthermia 3 Malignant Hyperthermia 4
Malignant Hyperthermia 5 Malignant Hyperthermia 6
Rare Disease with Malignant Hyperthermia

Diseases related to Malignant Hyperthermia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia susceptibility 29.5 SLC6A8 RYR1
2 malignant hyperthermia 29.3 SLC6A8 RYR1
3 hereditary breast ovarian cancer syndrome 11.0
4 central core disease of muscle 11.0
5 disease of mental health 10.3
6 pectus excavatum 10.3
7 ptosis 10.3
8 stac3 disorder 10.3
9 hypotonia 10.3
10 hypertelorism 10.1
11 batten-turner congenital myopathy 10.1
12 scoliosis 10.1
13 respiratory failure 10.1
14 muscular dystrophy, becker type 10.0
15 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
16 neuromuscular disease 10.0
17 muscular dystrophy 10.0
18 major depressive disorder 10.0
19 mental depression 10.0
20 myopathy 10.0
21 scarlet fever 10.0
22 depression 10.0
23 neuroleptic malignant syndrome 9.9
24 attention deficit-hyperactivity disorder 9.8
25 hypertension, essential 9.8
26 malignant hyperthermia 2 9.8
27 malignant hyperthermia 3 9.8
28 lung cancer 9.8
29 late-onset retinal degeneration 9.8
30 resting heart rate, variation in 9.8
31 anxiety 9.8
32 oppositional defiant disorder 9.8
33 malignant hypertension 9.8
34 hepatic coma 9.8
35 conduct disorder 9.8
36 hepatic encephalopathy 9.8
37 azoospermia 9.8
38 generalized anxiety disorder 9.8
39 pustulosis of palm and sole 9.8
40 severe combined immunodeficiency 9.8
41 psoriasis 9.8
42 encephalopathy 9.8
43 cleft palate, isolated 9.7
44 creatine phosphokinase, elevated serum 9.7
45 noonan syndrome 1 9.7
46 cryptorchidism, unilateral or bilateral 9.7
47 myopathy, congenital, bailey-bloch 9.7
48 diaphragmatic eventration 9.7
49 pectus carinatum 9.7
50 pseudo-turner syndrome 9.7

Graphical network of the top 20 diseases related to Malignant Hyperthermia 1:



Diseases related to Malignant Hyperthermia 1
Sources

Symptoms & Phenotypes for Malignant Hyperthermia 1

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Human phenotypes related to Malignant Hyperthermia 1:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypotension 31 HP:0002615
2 fever 31 HP:0001945
3 elevated serum creatine kinase 31 HP:0003236
4 malignant hyperthermia 31 HP:0002047
5 hyperkalemia 31 HP:0002153
6 rigidity 31 HP:0002063
7 tachycardia 31 HP:0001649
8 hyperphosphatemia 31 HP:0002905
9 rhabdomyolysis 31 HP:0003201
10 abnormality of the coagulation cascade 31 HP:0003256
11 myoglobinuria 31 HP:0002913
12 mixed respiratory and metabolic acidosis 31 HP:0005967

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Vascular:
hypotension

Cardiovascular Heart:
tachycardia
cardiac arrhythmias

Metabolic Features:
mixed respiratory and metabolic acidosis

Hematology:
coagulopathy

Laboratory Abnormalities:
hyperkalemia
hyperphosphatemia
myoglobinuria
elevated serum cpk
diagnosis by exposing muscle biopsy to caffeine and/or halothane

Muscle Soft Tissue:
rhabdomyolysis
muscle rigidity

Neurologic Central Nervous System:
hyperthermia

Clinical features from OMIM®:

145600 (Updated 05-Mar-2021)

UMLS symptoms related to Malignant Hyperthermia 1:


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

GenomeRNAi Phenotypes related to Malignant Hyperthermia 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SINV) infection GR00310-A-1 9.13 SLC6A8
2 Decreased Sindbis virus (SINV) infection GR00310-A-2 9.13 RYR1 SLC6A8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.02 SLC6A8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.02 RYR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.02 RYR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.02 SLC6A8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.02 RYR1
Sources

Drugs & Therapeutics for Malignant Hyperthermia 1

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Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 1

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Dantrolene
Dantrolene Sodium
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Genetic Tests for Malignant Hyperthermia 1

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Genetic tests related to Malignant Hyperthermia 1:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia, Susceptibility to, 1 29 RYR1
2 King Denborough Syndrome 29
Sources

Anatomical Context for Malignant Hyperthermia 1

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MalaCards organs/tissues related to Malignant Hyperthermia 1:

40
Skeletal Muscle
Sources

Publications for Malignant Hyperthermia 1

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Articles related to Malignant Hyperthermia 1:

(show top 50) (show all 96)
# Title Authors PMID Year
1
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 57 6
18765655 2008
2
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. 57 6
14732627 2004
3
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 6 57
11389482 2001
4
Malignant hyperthermia and apparent heat stroke. 57 6
11448278 2001
5
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 6 57
9497245 1998
6
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. 57 6
1774073 1991
7
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. 6 57
1774074 1991
8
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. 57 6
1862346 1991
9
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. 57
19807743 2009
10
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 57
16163667 2005
11
Several interacting genes influence the malignant hyperthermia phenotype. 57
12522565 2003
12
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. 6
12220451 2002
13
Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test. 57
12047971 2002
14
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. 6
11741831 2001
15
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 6
11274444 2001
16
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. 6
11063719 2000
17
Multiple interacting gene products may influence susceptibility to malignant hyperthermia. 57
11415515 2000
18
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. 6
10888602 2000
19
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. 6
10097181 1999
20
Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia. 6
9831351 1998
21
King syndrome: further clinical variability and review of the literature. 57
9677061 1998
22
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 6
9450902 1998
23
Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. 6
9543323 1998
24
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. 6
9520251 1997
25
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. 57
9199552 1997
26
To fire the train: a second malignant-hyperthermia gene. 57
9199549 1997
27
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. 6
9106529 1997
28
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 6
9030597 1997
29
Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers. 57
9147872 1996
30
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 6
8661021 1996
31
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. 6
8828983 1996
32
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. 6
8592342 1995
33
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. 6
7586638 1995
34
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. 6
7762556 1995
35
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. 6
7554356 1995
36
Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed. 57
7767091 1995
37
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. 6
7889656 1994
38
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. 6
7849712 1994
39
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. 6
7829078 1994
40
The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. 6
7511586 1994
41
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. 6
8012359 1994
42
Fatal inherited rhabdomyolysis and malignant hyperthermia. 57
7904690 1994
43
The genetics of malignant hyperthermia. 57
8383206 1993
44
No C1840 to T mutation in RYR1 in malignant hyperthermia. 6
8401544 1993
45
High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families. 57
1427902 1992
46
King syndrome: a genetically heterogenous phenotype due to congenital myopathies. 57
1415346 1992
47
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. 6
1354642 1992
48
Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. 6
1639409 1992
49
Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome. 57
1508238 1992
50
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. 57
1598899 1992
Sources

Variations for Malignant Hyperthermia 1

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ClinVar genetic disease variations for Malignant Hyperthermia 1:

6 (show top 50) (show all 671)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) SNV Pathogenic 12964 rs118192172 19:38948185-38948185 19:38457545-38457545
2 RYR1 NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) SNV Pathogenic 12970 rs121918593 19:38990633-38990633 19:38499993-38499993
3 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
4 RYR1 NM_000540.2(RYR1):c.97A>G (p.Lys33Glu) SNV Pathogenic 55831 rs193922746 19:38931436-38931436 19:38440796-38440796
5 RYR1 NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) SNV Pathogenic 133182 rs193922802 19:38990295-38990295 19:38499655-38499655
6 RYR1 NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) SNV Pathogenic 133026 rs193922842 19:39034461-39034461 19:38543821-38543821
7 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
8 RYR1 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) SNV Pathogenic 12964 rs118192172 19:38948185-38948185 19:38457545-38457545
9 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) SNV Pathogenic 133012 rs193922839 19:39025415-39025415 19:38534775-38534775
10 RYR1 NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) SNV Pathogenic 12970 rs121918593 19:38990633-38990633 19:38499993-38499993
11 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic 12975 rs118192170 19:39075629-39075629 19:38584989-38584989
12 RYR1 NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) SNV Pathogenic 133183 rs193922803 19:38990310-38990310 19:38499670-38499670
13 RYR1 NM_000540.2(RYR1):c.10347+1G>A SNV Pathogenic 224998 rs111436401 19:39013756-39013756 19:38523116-38523116
14 RYR1 NM_000540.2(RYR1):c.10348-6C>G SNV Pathogenic 132994 rs193922837 19:39013851-39013851 19:38523211-38523211
15 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) SNV Pathogenic 161361 rs377178986 19:39034060-39034060 19:38543420-38543420
16 RYR1 NM_000540.3(RYR1):c.5995del (p.Arg1999fs) Deletion Pathogenic 637046 rs1600787461 19:38980895-38980895 19:38490255-38490255
17 RYR1 NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) SNV Pathogenic 12982 rs63749869 19:39071080-39071080 19:38580440-38580440
18 RYR1 NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) SNV Pathogenic 12984 rs118192168 19:39071043-39071043 19:38580403-38580403
19 RYR1 NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) SNV Pathogenic 65980 rs118192122 19:38991283-38991283 19:38500643-38500643
20 SLC6A8 NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) SNV Pathogenic 975971 X:152960203-152960203 X:153694748-153694748
21 RYR1 NM_000540.3(RYR1):c.1589G>A (p.Arg530His) SNV Pathogenic 133101 rs111888148 19:38946103-38946103 19:38455463-38455463
22 RYR1 NM_000540.2(RYR1):c.10348-6C>G SNV Pathogenic 132994 rs193922837 19:39013851-39013851 19:38523211-38523211
23 RYR1 NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) SNV Pathogenic 983140 19:38942483-38942483 19:38451843-38451843
24 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) SNV Pathogenic 159856 rs200563280 19:38987106-38987106 19:38496466-38496466
25 RYR1 NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) SNV Pathogenic 133202 rs193922816 19:38991282-38991282 19:38500642-38500642
26 RYR1 NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) SNV Pathogenic/Likely pathogenic 133144 rs193922781 19:38976478-38976478 19:38485838-38485838
27 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic/Likely pathogenic 12975 rs118192170 19:39075629-39075629 19:38584989-38584989
28 RYR1 NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) SNV risk factor 12976 rs118192176 19:38985219-38985219 19:38494579-38494579
29 RYR1 NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) SNV Likely pathogenic 133029 rs193922764 19:38942482-38942482 19:38451842-38451842
30 RYR1 NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) SNV Likely pathogenic 133098 rs146876145 19:39076780-39076780 19:38586140-38586140
31 RYR1 NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) SNV risk factor 12978 rs121918595 19:39070734-39070734 19:38580094-38580094
32 RYR1 NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) SNV risk factor 12979 rs118192167 19:39070644-39070644 19:38580004-38580004
33 RYR1 NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del) Microsatellite risk factor 133180 rs121918596 19:38990285-38990287 19:38499645-38499647
34 RYR1 NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp) SNV risk factor 12985 rs193922826 19:38994959-38994959 19:38504319-38504319
35 RYR1 NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser) SNV risk factor 12993 rs118192162 19:38945999-38945999 19:38455359-38455359
36 RYR1 NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) SNV Likely pathogenic 12971 rs28933397 19:38991294-38991294 19:38500654-38500654
37 RYR1 NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) SNV risk factor 12973 rs118192175 19:38985204-38985204 19:38494564-38494564
38 RYR1 NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) SNV risk factor 12974 rs118192163 19:38985205-38985205 19:38494565-38494565
39 RYR1 NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) SNV risk factor 12965 rs1801086 19:38937350-38937350 19:38446710-38446710
40 RYR1 NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) SNV risk factor 12967 rs118192161 19:38934851-38934851 19:38444211-38444211
41 RYR1 NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) SNV risk factor 12969 rs121918592 19:38939352-38939352 19:38448712-38448712
42 RYR1 NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter) SNV Likely pathogenic 929034 19:38955328-38955328 19:38464688-38464688
43 RYR1 NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) SNV Likely pathogenic 872071 19:38946169-38946169 19:38455529-38455529
44 RYR1 NM_000540.2(RYR1):c.7060G>A (p.Val2354Met) SNV Likely pathogenic 590580 rs746971794 19:38990307-38990307 19:38499667-38499667
45 RYR1 NM_000540.3(RYR1):c.11314C>T SNV Likely pathogenic 478159 rs763112609 19:39025414-39025414 19:38534774-38534774
46 RYR1 NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) SNV Likely pathogenic 133098 rs146876145 19:39076780-39076780 19:38586140-38586140
47 RYR1 NM_000540.2(RYR1):c.6671G>A (p.Arg2224His) SNV Likely pathogenic 478260 rs537994744 19:38987056-38987056 19:38496416-38496416
48 RYR1 NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn) SNV Likely pathogenic 803553 rs1600820232 19:38990320-38990320 19:38499680-38499680
49 RYR1 NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg) SNV Likely pathogenic 803554 rs1568501059 19:38990370-38990370 19:38499730-38499730
50 RYR1 NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) SNV Likely pathogenic 803555 rs1600921854 19:39016072-39016072 19:38525432-38525432

UniProtKB/Swiss-Prot genetic disease variations for Malignant Hyperthermia 1:

73 (show top 50) (show all 93)
# Symbol AA change Variation ID SNP ID
1 RYR1 p.Cys35Arg VAR_005589 rs193922747
2 RYR1 p.Arg163Cys VAR_005590 rs118192161
3 RYR1 p.Gly341Arg VAR_005592 rs121918592
4 RYR1 p.Ile403Met VAR_005593 rs118192116
5 RYR1 p.Tyr522Ser VAR_005595 rs118192162
6 RYR1 p.Arg552Trp VAR_005596 rs193922770
7 RYR1 p.Arg614Cys VAR_005597 rs118192172
8 RYR1 p.Arg614Leu VAR_005598 rs193922772
9 RYR1 p.Arg2163Cys VAR_005601 rs118192175
10 RYR1 p.Arg2163His VAR_005602 rs118192163
11 RYR1 p.Val2168Met VAR_005603 rs118192176
12 RYR1 p.Thr2206Met VAR_005604 rs118192177
13 RYR1 p.Gly2434Arg VAR_005605 rs121918593
14 RYR1 p.Arg2435His VAR_005606 rs28933396
15 RYR1 p.Arg533His VAR_008971 rs144336148
16 RYR1 p.Arg2163Pro VAR_008972 rs118192163
17 RYR1 p.Thr2206Arg VAR_008973 rs118192177
18 RYR1 p.Arg2435Leu VAR_008974 rs28933396
19 RYR1 p.Arg2454Cys VAR_008975 rs193922816
20 RYR1 p.Arg2454His VAR_008976 rs118192122
21 RYR1 p.Arg2458Cys VAR_008977 rs28933397
22 RYR1 p.Arg2458His VAR_008978 rs121918594
23 RYR1 p.Arg44Cys VAR_045695 rs193922748
24 RYR1 p.Arg163Leu VAR_045697 rs193922753
25 RYR1 p.Gly165Arg VAR_045698 rs193922754
26 RYR1 p.Asp166Asn VAR_045699 rs193922755
27 RYR1 p.Arg177Cys VAR_045700 rs193922757
28 RYR1 p.Tyr178Cys VAR_045701
29 RYR1 p.Asp227Val VAR_045703 rs193922760
30 RYR1 p.Arg328Trp VAR_045704 rs193922762
31 RYR1 p.Arg401Cys VAR_045705 rs193922764
32 RYR1 p.Arg401His VAR_045706 rs193922766
33 RYR1 p.Arg401Ser VAR_045707
34 RYR1 p.Arg533Cys VAR_045708 rs193922768
35 RYR1 p.Val2117Leu VAR_045712 rs193922788
36 RYR1 p.Asp2129Glu VAR_045713 rs117886618
37 RYR1 p.Val2214Ile VAR_045714 rs193922795
38 RYR1 p.Val2280Ile VAR_045715 rs193922797
39 RYR1 p.Asn2342Ser VAR_045716 rs147213895
40 RYR1 p.Val2346Met VAR_045718 rs193922799
41 RYR1 p.Glu2348Gly VAR_045720 rs193922801
42 RYR1 p.Ala2350Thr VAR_045721 rs193922802
43 RYR1 p.Arg2355Cys VAR_045722
44 RYR1 p.Ala2367Thr VAR_045723 rs146306934
45 RYR1 p.Ala2428Thr VAR_045725 rs193922809
46 RYR1 p.Asp2431Asn VAR_045726 rs193922810
47 RYR1 p.Ala2437Val VAR_045727 rs193922812
48 RYR1 p.Arg2452Trp VAR_045728 rs118192124
49 RYR1 p.Ile3916Met VAR_045735 rs193922840
50 RYR1 p.Arg4136Ser VAR_045736 rs193922849

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Expression for Malignant Hyperthermia 1

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Search GEO for disease gene expression data for Malignant Hyperthermia 1.
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Pathways for Malignant Hyperthermia 1

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GO Terms for Malignant Hyperthermia 1

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Biological processes related to Malignant Hyperthermia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.16 SLC6A8 RYR1
2 transmembrane transport GO:0055085 8.96 SLC6A8 RYR1
3 muscle contraction GO:0006936 8.62 SLC6A8 RYR1
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Sources for Malignant Hyperthermia 1

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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