MHS1
MCID: MLG147
MIFTS: 41

Malignant Hyperthermia 1 (MHS1)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Malignant Hyperthermia 1

MalaCards integrated aliases for Malignant Hyperthermia 1:

Name: Malignant Hyperthermia 1 58 76
Malignant Hyperthermia, Susceptibility to, 1 58 30 6 17
King Denborough Syndrome 54 30 6 74
Malignant Hyperthermia Susceptibility Type 1 77 54 74
King-Denborough Syndrome 58 77 60
Mhs1 58 54 76
Malignant Hyperthermia Susceptibility 1 58 13
Hyperthermia of Anesthesia 58 54
Hyperpyrexia, Malignant 58 54
Mhs 58 54
Anesthetic-Induced Malignant Hyperpyrexia in Children 54
Hyperthermia, Malignant, Susceptibility, Type 1 41
Malignant Hyperpyrexia Due to Anesthesia 74
Hyperpyrexia, Malignant; Mh 58
Koussef-Nichols Syndrome 60
King Syndrome 54
Mh 58

Characteristics:

Orphanet epidemiological data:

60
king-denborough syndrome
Inheritance: Autosomal dominant;

OMIM:

58
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:

33
malignant hyperthermia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 145600
MESH via Orphanet 46 C536883
ICD10 via Orphanet 35 G71.2
UMLS via Orphanet 75 C1840365
Orphanet 60 ORPHA99741

Summaries for Malignant Hyperthermia 1

UniProtKB/Swiss-Prot : 76 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 of anesthesia and central core disease of muscle, 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, testes and heart, and related phenotypes are hypotension and fever

NIH Rare Diseases : 54 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 geneĀ (RYR1), which has been tied to malignant hyperthermia and central core disease.

OMIM : 58 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)

Wikipedia : 77 Malignant hyperthermia (MH) is a type of severe reaction that occurs to particular medications used... more...

Related Diseases for Malignant Hyperthermia 1

Diseases in the Malignant Hyperthermia family:

Malignant Hyperthermia 1 Malignant Hyperthermia 2
Malignant Hyperthermia 3 Malignant Hyperthermia 4
Malignant Hyperthermia 5 Malignant Hyperthermia 6

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia of anesthesia 12.4
2 central core disease of muscle 11.2
3 malignant hyperthermia 2 11.0
4 malignant hyperthermia 3 11.0
5 myotonia congenita, autosomal recessive 11.0
6 malignant hyperthermia 4 11.0
7 malignant hyperthermia 5 11.0
8 malignant hyperthermia 6 11.0
9 myotonia congenita 11.0
10 disease of mental health 10.3
11 hypotonia 10.3
12 malignant hyperthermia susceptibility 10.2
13 malignant hyperthermia 10.1
14 papillomatosis, confluent and reticulated 10.1
15 depression 10.1
16 melnick-needles syndrome 10.0
17 blood group--swann system 10.0
18 anxiety 10.0
19 major depressive disorder 10.0
20 cardiac arrest 10.0
21 legionnaires' disease 10.0
22 histiocytosis 10.0
23 macular holes 10.0
24 malignant histiocytosis 10.0
25 polymorphic reticulosis 10.0
26 prostate cancer 9.9
27 retinal detachment 9.9
28 lung cancer 9.9
29 coffin-lowry syndrome 9.9
30 asthma 9.9
31 horns in sheep 9.9
32 prostate cancer, hereditary, 8 9.9
33 late-onset retinal degeneration 9.9
34 pulmonary disease, chronic obstructive 9.9
35 myocardial infarction 9.9
36 prostate cancer, hereditary, 6 9.9
37 deafness-infertility syndrome 9.9
38 glutathione peroxidase deficiency 9.9
39 peripheral vascular disease 9.9
40 polycystic ovary syndrome 9.9
41 paraganglioma 9.9
42 sleep apnea 9.9
43 lymphoma 9.9
44 catecholaminergic polymorphic ventricular tachycardia 9.9
45 malignant hypertension 9.9
46 japanese encephalitis 9.9
47 choreatic disease 9.9
48 acute cystitis 9.9
49 generalized anxiety disorder 9.9
50 mental depression 9.9

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



Diseases related to Malignant Hyperthermia 1

Symptoms & Phenotypes for Malignant Hyperthermia 1

Human phenotypes related to Malignant Hyperthermia 1:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypotension 33 HP:0002615
2 fever 33 HP:0001945
3 malignant hyperthermia 33 HP:0002047
4 rigidity 33 HP:0002063
5 hyperkalemia 33 HP:0002153
6 tachycardia 33 HP:0001649
7 abnormality of the coagulation cascade 33 HP:0003256
8 hyperphosphatemia 33 HP:0002905
9 myoglobinuria 33 HP:0002913
10 rhabdomyolysis 33 HP:0003201
11 mixed respiratory and metabolic acidosis 33 HP:0005967
12 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypotension

Cardiovascular Heart:
tachycardia
cardiac arrhythmias

Neurologic Central Nervous System:
hyperthermia

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

Metabolic Features:
mixed respiratory and metabolic acidosis

Clinical features from OMIM:

145600

UMLS symptoms related to Malignant Hyperthermia 1:


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

Drugs & Therapeutics for Malignant Hyperthermia 1

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Malignant Hyperthermia 1

Genetic tests related to Malignant Hyperthermia 1:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia, Susceptibility to, 1 30 RYR1
2 King Denborough Syndrome 30

Anatomical Context for Malignant Hyperthermia 1

MalaCards organs/tissues related to Malignant Hyperthermia 1:

42
Skeletal Muscle, Testes, Heart, Bone

Publications for Malignant Hyperthermia 1

Articles related to Malignant Hyperthermia 1:

(show all 46)
# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report. ( 27918309 )
2017
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
5
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. ( 21514828 )
2011
6
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. ( 18765655 )
2008
7
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. ( 14732627 )
2004
8
Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. ( 14870754 )
2004
9
Anesthetic management of a ventilator-dependent parturient with the King-Denborough syndrome. ( 12826552 )
2003
10
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. ( 12220451 )
2002
11
King-Denborough Syndrome: report of two Brazilian cases. ( 12364941 )
2002
12
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. ( 11389482 )
2001
13
Malignant hyperthermia and apparent heat stroke. ( 11448278 )
2001
14
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. ( 11274444 )
2001
15
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. ( 11741831 )
2001
16
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. ( 10888602 )
2000
17
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. ( 11063719 )
2000
18
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. ( 10097181 )
1999
19
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. ( 9497245 )
1998
20
Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. ( 9543323 )
1998
21
Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia. ( 9831351 )
1998
22
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. ( 9450902 )
1998
23
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. ( 9030597 )
1997
24
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. ( 9520251 )
1997
25
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. ( 9106529 )
1997
26
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. ( 8661021 )
1996
27
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. ( 8828983 )
1996
28
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. ( 7554356 )
1995
29
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. ( 7586638 )
1995
30
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. ( 7762556 )
1995
31
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. ( 8592342 )
1995
32
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. ( 7511586 )
1994
33
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. ( 7829078 )
1994
34
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. ( 7849712 )
1994
35
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. ( 7889656 )
1994
36
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. ( 8012359 )
1994
37
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. ( 8220423 )
1993
38
No C1840 to T mutation in RYR1 in malignant hyperthermia. ( 8401544 )
1993
39
DNA sequence of the skeletal muscle calcium release channel cDNA and verification of the Arg615----Cys615 mutation, associated with porcine malignant hyperthermia, in Norwegian landrace pigs. ( 1329581 )
1992
40
Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. ( 1639409 )
1992
41
Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome. ( 1508238 )
1992
42
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. ( 1354642 )
1992
43
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. ( 1862346 )
1991
44
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. ( 1774074 )
1991
45
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. ( 1774073 )
1991
46
King-Denborough syndrome: contracture testing and literature review. ( 2907859 )
1986

Variations for Malignant Hyperthermia 1

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

76 (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

ClinVar genetic disease variations for Malignant Hyperthermia 1:

6 (show top 50) (show all 295)
# 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.742G> A (p.Gly248Arg) single nucleotide variant Pathogenic rs1801086 GRCh37 Chromosome 19, 38937350: 38937350
4 RYR1 NM_000540.2(RYR1): c.742G> A (p.Gly248Arg) single nucleotide variant Pathogenic rs1801086 GRCh38 Chromosome 19, 38446710: 38446710
5 RYR1 NM_000540.2(RYR1): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs118192161 GRCh37 Chromosome 19, 38934851: 38934851
6 RYR1 NM_000540.2(RYR1): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs118192161 GRCh38 Chromosome 19, 38444211: 38444211
7 RYR1 NM_000540.2(RYR1): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs118192161 NCBI36 Chromosome 19, 43626691: 43626691
8 RYR1 NM_000540.2(RYR1): c.1021G> A (p.Gly341Arg) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121918592 GRCh37 Chromosome 19, 38939352: 38939352
9 RYR1 NM_000540.2(RYR1): c.1021G> A (p.Gly341Arg) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121918592 GRCh38 Chromosome 19, 38448712: 38448712
10 RYR1 NM_000540.2(RYR1): c.7300G> A (p.Gly2434Arg) single nucleotide variant Pathogenic rs121918593 GRCh37 Chromosome 19, 38990633: 38990633
11 RYR1 NM_000540.2(RYR1): c.7300G> A (p.Gly2434Arg) single nucleotide variant Pathogenic rs121918593 GRCh38 Chromosome 19, 38499993: 38499993
12 RYR1 NM_000540.2(RYR1): c.7372C> T (p.Arg2458Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28933397 GRCh37 Chromosome 19, 38991294: 38991294
13 RYR1 NM_000540.2(RYR1): c.7372C> T (p.Arg2458Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28933397 GRCh38 Chromosome 19, 38500654: 38500654
14 RYR1 NM_000540.2(RYR1): c.7373G> A (p.Arg2458His) single nucleotide variant Pathogenic rs121918594 GRCh37 Chromosome 19, 38991295: 38991295
15 RYR1 NM_000540.2(RYR1): c.7373G> A (p.Arg2458His) single nucleotide variant Pathogenic rs121918594 GRCh38 Chromosome 19, 38500655: 38500655
16 RYR1 NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys) single nucleotide variant Pathogenic rs118192175 GRCh37 Chromosome 19, 38985204: 38985204
17 RYR1 NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys) single nucleotide variant Pathogenic rs118192175 GRCh38 Chromosome 19, 38494564: 38494564
18 RYR1 NM_000540.2(RYR1): c.6488G> A (p.Arg2163His) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192163 GRCh37 Chromosome 19, 38985205: 38985205
19 RYR1 NM_000540.2(RYR1): c.6488G> A (p.Arg2163His) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192163 GRCh38 Chromosome 19, 38494565: 38494565
20 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic rs118192170 GRCh37 Chromosome 19, 39075629: 39075629
21 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic rs118192170 GRCh38 Chromosome 19, 38584989: 38584989
22 RYR1 NM_000540.2(RYR1): c.6502G> A (p.Val2168Met) single nucleotide variant Pathogenic rs118192176 GRCh37 Chromosome 19, 38985219: 38985219
23 RYR1 NM_000540.2(RYR1): c.6502G> A (p.Val2168Met) single nucleotide variant Pathogenic rs118192176 GRCh38 Chromosome 19, 38494579: 38494579
24 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh37 Chromosome 19, 38986923: 38986923
25 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh38 Chromosome 19, 38496283: 38496283
26 RYR1 NM_000540.2(RYR1): c.14477C> T (p.Thr4826Ile) single nucleotide variant Pathogenic rs121918595 GRCh37 Chromosome 19, 39070734: 39070734
27 RYR1 NM_000540.2(RYR1): c.14477C> T (p.Thr4826Ile) single nucleotide variant Pathogenic rs121918595 GRCh38 Chromosome 19, 38580094: 38580094
28 RYR1 NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys) single nucleotide variant Pathogenic,risk factor rs118192167 GRCh37 Chromosome 19, 39070644: 39070644
29 RYR1 NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys) single nucleotide variant Pathogenic,risk factor rs118192167 GRCh38 Chromosome 19, 38580004: 38580004
30 RYR1 NM_000540.2(RYR1): c.8026C> T (p.Arg2676Trp) single nucleotide variant Uncertain significance rs193922826 GRCh37 Chromosome 19, 38994959: 38994959
31 RYR1 NM_000540.2(RYR1): c.8026C> T (p.Arg2676Trp) single nucleotide variant Uncertain significance rs193922826 GRCh38 Chromosome 19, 38504319: 38504319
32 RYR1 NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser) single nucleotide variant Pathogenic,risk factor rs118192162 GRCh37 Chromosome 19, 38945999: 38945999
33 RYR1 NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser) single nucleotide variant Pathogenic,risk factor rs118192162 GRCh38 Chromosome 19, 38455359: 38455359
34 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh37 Chromosome 19, 38995998: 38995998
35 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh38 Chromosome 19, 38505358: 38505358
36 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh37 Chromosome 19, 39002893: 39002893
37 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh38 Chromosome 19, 38512253: 38512253
38 RYR1 NM_000540.2(RYR1): c.97A> G (p.Lys33Glu) single nucleotide variant Uncertain significance rs193922746 GRCh37 Chromosome 19, 38931436: 38931436
39 RYR1 NM_000540.2(RYR1): c.97A> G (p.Lys33Glu) single nucleotide variant Uncertain significance rs193922746 GRCh38 Chromosome 19, 38440796: 38440796
40 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic/Likely pathogenic rs193922837 GRCh37 Chromosome 19, 39013851: 39013851
41 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic/Likely pathogenic rs193922837 GRCh38 Chromosome 19, 38523211: 38523211
42 RYR1 NM_000540.2(RYR1): c.7361G> A (p.Arg2454His) single nucleotide variant Pathogenic rs118192122 GRCh37 Chromosome 19, 38991283: 38991283
43 RYR1 NM_000540.2(RYR1): c.7361G> A (p.Arg2454His) single nucleotide variant Pathogenic rs118192122 GRCh38 Chromosome 19, 38500643: 38500643
44 RYR1 NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met) single nucleotide variant Pathogenic/Likely pathogenic rs118192140 GRCh37 Chromosome 19, 39063944: 39063944
45 RYR1 NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met) single nucleotide variant Pathogenic/Likely pathogenic rs118192140 GRCh38 Chromosome 19, 38573304: 38573304
46 RYR1 NM_000540.2(RYR1): c.12629A> G (p.Lys4210Arg) single nucleotide variant Uncertain significance rs138932463 GRCh37 Chromosome 19, 39055603: 39055603
47 RYR1 NM_000540.2(RYR1): c.12629A> G (p.Lys4210Arg) single nucleotide variant Uncertain significance rs138932463 GRCh38 Chromosome 19, 38564963: 38564963
48 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh37 Chromosome 19, 39055853: 39055853
49 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh38 Chromosome 19, 38565213: 38565213
50 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh37 Chromosome 19, 39057626: 39057626

Expression for Malignant Hyperthermia 1

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

Pathways for Malignant Hyperthermia 1

GO Terms for Malignant Hyperthermia 1

Sources for Malignant Hyperthermia 1

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