MHS1
MCID: MLG147
MIFTS: 43

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 56 73
Malignant Hyperthermia, Susceptibility to, 1 56 29 6 17
King Denborough Syndrome 52 29 6 71
King-Denborough Syndrome 56 74 58
Malignant Hyperthermia Susceptibility Type 1 74 71
Malignant Hyperthermia Susceptibility 1 56 13
Mhs1 56 73
Anesthetic-Induced Malignant Hyperpyrexia in Children 52
Hyperthermia, Malignant, Susceptibility, Type 1 39
Malignant Hyperpyrexia Due to Anesthesia 71
Hyperpyrexia, Malignant; Mh 56
Hyperthermia of Anesthesia 56
Koussef-Nichols Syndrome 58
Hyperpyrexia, Malignant 56
King Syndrome 52
Mhs 56
Mh 56

Characteristics:

Orphanet epidemiological data:

58
king-denborough syndrome
Inheritance: Autosomal dominant;

OMIM:

56
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 145600
OMIM Phenotypic Series 56 PS145600
MESH via Orphanet 44 C536883
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C1840365
Orphanet 58 ORPHA99741
UMLS 71 C0024591 C1840365 C2930980

Summaries for Malignant Hyperthermia 1

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 2 and malignant hyperthermia 3, 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 : 52 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 : 56 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 : 74 Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular... 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
Rare Disease with Malignant Hyperthermia

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 2 11.5
2 malignant hyperthermia 3 11.5
3 central core disease of muscle 11.3
4 myotonia congenita, autosomal recessive 11.2
5 malignant hyperthermia 4 11.2
6 malignant hyperthermia 5 11.2
7 malignant hyperthermia 6 11.2
8 myotonia congenita 11.2
9 pectus excavatum 10.4
10 ptosis 10.4
11 stac3 disorder 10.4
12 hypotonia 10.4
13 disease of mental health 10.3
14 malignant hyperthermia susceptibility 10.3
15 malignant hyperthermia 10.3
16 hypertelorism 10.3
17 myopathy, congenital 10.3
18 scoliosis 10.3
19 respiratory failure 10.3
20 major depressive disorder 10.2
21 mental depression 10.2
22 depression 10.2
23 papillomatosis, confluent and reticulated 10.2
24 cardiac arrest 10.2
25 myopathy 10.2
26 refsum disease with increased pipecolic acidemia 10.2
27 muscular dystrophy, duchenne type 10.1
28 muscle hypertrophy 10.1
29 allergic hypersensitivity disease 10.1
30 generalized anxiety disorder 10.1
31 histiocytosis 10.1
32 neuromuscular disease 10.1
33 macular holes 10.1
34 malignant histiocytosis 10.1
35 muscular dystrophy 10.1
36 muscular dystrophy, becker type 10.0
37 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
38 congenital anomalies of kidney and urinary tract 2 9.9
39 attention deficit-hyperactivity disorder 9.9
40 renal cell carcinoma, nonpapillary 9.9
41 hypertension, essential 9.9
42 retinal detachment 9.9
43 triiodothyronine receptor auxiliary protein 9.9
44 lymphoma, hodgkin, classic 9.9
45 retinoschisis 1, x-linked, juvenile 9.9
46 lymphoma, non-hodgkin, familial 9.9
47 late-onset retinal degeneration 9.9
48 pulmonary disease, chronic obstructive 9.9
49 resting heart rate, variation in 9.9
50 coronary heart disease 1 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:

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

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Malignant Hyperthermia 1:


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

Drugs & Therapeutics for Malignant Hyperthermia 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Syndrome: Assessment of Coloscopy With Chromoscopy Benefit Completed NCT00224601 Phase 2

Search NIH Clinical Center for Malignant Hyperthermia 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dantrolene
Dantrolene Sodium

Genetic Tests for Malignant Hyperthermia 1

Genetic tests related to Malignant Hyperthermia 1:

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

Anatomical Context for Malignant Hyperthermia 1

MalaCards organs/tissues related to Malignant Hyperthermia 1:

40
Skeletal Muscle, Testes, Heart

Publications for Malignant Hyperthermia 1

Articles related to Malignant Hyperthermia 1:

(show top 50) (show all 103)
# Title Authors PMID Year
1
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 6 56
18765655 2008
2
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. 6 56
14732627 2004
3
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 56 6
11389482 2001
4
Malignant hyperthermia and apparent heat stroke. 56 6
11448278 2001
5
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 6 56
9497245 1998
6
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. 6 56
1774073 1991
7
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. 6 56
1774074 1991
8
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. 6 56
1862346 1991
9
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes. 6
30499100 2019
10
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. 6
27854360 2017
11
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
12
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
13
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. 56
19807743 2009
14
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 56
16163667 2005
15
Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 6
14870754 2004
16
Malignant Hyperthermia Susceptibility 6
20301325 2003
17
Several interacting genes influence the malignant hyperthermia phenotype. 56
12522565 2003
18
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
19
Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test. 56
12047971 2002
20
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
21
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 6
11274444 2001
22
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
23
Multiple interacting gene products may influence susceptibility to malignant hyperthermia. 56
11415515 2000
24
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. 6
10888602 2000
25
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
26
Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia. 6
9831351 1998
27
King syndrome: further clinical variability and review of the literature. 56
9677061 1998
28
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 6
9450902 1998
29
Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. 6
9543323 1998
30
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. 6
9520251 1997
31
To fire the train: a second malignant-hyperthermia gene. 56
9199549 1997
32
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. 56
9199552 1997
33
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. 6
9106529 1997
34
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 6
9030597 1997
35
Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers. 56
9147872 1996
36
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 6
8661021 1996
37
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. 6
8828983 1996
38
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. 6
8592342 1995
39
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. 6
7586638 1995
40
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
41
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. 6
7554356 1995
42
Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed. 56
7767091 1995
43
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. 6
7889656 1994
44
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. 6
7849712 1994
45
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
46
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
47
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. 6
8012359 1994
48
Fatal inherited rhabdomyolysis and malignant hyperthermia. 56
7904690 1994
49
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. 6
8220423 1993
50
The genetics of malignant hyperthermia. 56
8383206 1993

Variations for Malignant Hyperthermia 1

ClinVar genetic disease variations for Malignant Hyperthermia 1:

6 (show top 50) (show all 147) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met)SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
2 RYR1 NM_001042723.2(RYR1):c.6721C>T (p.Arg2241Ter)SNV Pathogenic 159856 rs200563280 19:38987106-38987106 19:38496466-38496466
3 RYR1 NM_000540.2(RYR1):c.5995del (p.Arg1999fs)deletion Pathogenic 637046 19:38980896-38980896 19:38490256-38490256
4 RYR1 NM_000540.2(RYR1):c.11947C>T (p.Arg3983Cys)SNV Pathogenic/Likely pathogenic 650932 19:39034450-39034450 19:38543810-38543810
5 RYR1 NM_000540.2(RYR1):c.10347+1G>ASNV Pathogenic/Likely pathogenic 224998 rs111436401 19:39013756-39013756 19:38523116-38523116
6 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter)SNV Pathogenic/Likely pathogenic 161361 rs377178986 19:39034060-39034060 19:38543420-38543420
7 RYR1 NM_000540.2(RYR1):c.10348-6C>GSNV Pathogenic/Likely pathogenic 132994 rs193922837 19:39013851-39013851 19:38523211-38523211
8 RYR1 NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met)SNV Pathogenic/Likely pathogenic 65996 rs118192140 19:39063944-39063944 19:38573304-38573304
9 RYR1 NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu)SNV Pathogenic/Likely pathogenic 133026 rs193922842 19:39034461-39034461 19:38543821-38543821
10 RYR1 NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe)SNV Pathogenic/Likely pathogenic 133144 rs193922781 19:38976478-38976478 19:38485838-38485838
11 RYR1 NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu)SNV Likely pathogenic 133098 rs146876145 19:39076780-39076780 19:38586140-38586140
12 RYR1 NM_000540.2(RYR1):c.1589G>A (p.Arg530His)SNV drug response 133101 rs111888148 19:38946103-38946103 19:38455463-38455463
13 RYR1 NM_000540.2(RYR1):c.1598G>A (p.Arg533His)SNV drug response 133103 rs144336148 19:38946112-38946112 19:38455472-38455472
14 RYR1 NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del)short repeat drug response 133180 rs121918596 19:38990289-38990291 19:38499649-38499651
15 RYR1 NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr)SNV drug response 133182 rs193922802 19:38990295-38990295 19:38499655-38499655
16 RYR1 NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp)SNV drug response 133183 rs193922803 19:38990310-38990310 19:38499670-38499670
17 RYR1 NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr)SNV Likely pathogenic 133187 rs146306934 19:38990346-38990346 19:38499706-38499706
18 RYR1 NM_000540.2(RYR1):c.7361G>A (p.Arg2454His)SNV drug response 65980 rs118192122 19:38991283-38991283 19:38500643-38500643
19 RYR1 NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile)SNV drug response 12978 rs121918595 19:39070734-39070734 19:38580094-38580094
20 RYR1 NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys)SNV drug response 12979 rs118192167 19:39070644-39070644 19:38580004-38580004
21 RYR1 NM_000540.2(RYR1):c.14582G>A (p.Arg4861His)SNV drug response 12982 rs63749869 19:39071080-39071080 19:38580440-38580440
22 RYR1 NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser)SNV drug response 12993 rs118192162 19:38945999-38945999 19:38455359-38455359
23 RYR1 NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys)SNV drug response 12964 rs118192172 19:38948185-38948185 19:38457545-38457545
24 RYR1 NM_000540.2(RYR1):c.742G>A (p.Gly248Arg)SNV drug response 12965 rs1801086 19:38937350-38937350 19:38446710-38446710
25 RYR1 NM_000540.2(RYR1):c.487C>T (p.Arg163Cys)SNV drug response 12967 rs118192161 19:38934851-38934851 19:38444211-38444211
26 RYR1 NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg)SNV drug response 12969 rs121918592 19:38939352-38939352 19:38448712-38448712
27 RYR1 NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg)SNV drug response 12970 rs121918593 19:38990633-38990633 19:38499993-38499993
28 RYR1 NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys)SNV drug response 12971 rs28933397 19:38991294-38991294 19:38500654-38500654
29 RYR1 NM_000540.2(RYR1):c.7373G>A (p.Arg2458His)SNV drug response 12972 rs121918594 19:38991295-38991295 19:38500655-38500655
30 RYR1 NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys)SNV drug response 12973 rs118192175 19:38985204-38985204 19:38494564-38494564
31 RYR1 NM_000540.2(RYR1):c.6488G>A (p.Arg2163His)SNV drug response 12974 rs118192163 19:38985205-38985205 19:38494565-38494565
32 RYR1 NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr)SNV drug response 12975 rs118192170 19:39075629-39075629 19:38584989-38584989
33 RYR1 NM_000540.2(RYR1):c.6502G>A (p.Val2168Met)SNV drug response 12976 rs118192176 19:38985219-38985219 19:38494579-38494579
34 RYR1 NM_000540.2(RYR1):c.7836-1G>ASNV Likely pathogenic 560259 rs1568507354 19:38993519-38993519 19:38502879-38502879
35 RYR1 NM_000540.2(RYR1):c.11314C>T (p.Arg3772Trp)SNV Likely pathogenic 478159 rs763112609 19:39025414-39025414 19:38534774-38534774
36 RYR1 NM_000540.2(RYR1):c.14670G>C (p.Val4890=)SNV Conflicting interpretations of pathogenicity 329138 rs773080803 19:39075606-39075606 19:38584966-38584966
37 RYR1 NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr)SNV Conflicting interpretations of pathogenicity 224402 rs151119428 19:39052023-39052023 19:38561383-38561383
38 RYR1 NM_000540.2(RYR1):c.14929G>C (p.Glu4977Gln)SNV Conflicting interpretations of pathogenicity 224408 rs200777598 19:39076791-39076791 19:38586151-38586151
39 RYR1 NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys)SNV Conflicting interpretations of pathogenicity 224380 rs144157950 19:38976294-38976294 19:38485654-38485654
40 RYR1 NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn)SNV Conflicting interpretations of pathogenicity 167619 rs566495420 19:38995716-38995716 19:38505076-38505076
41 RYR1 NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe)SNV Conflicting interpretations of pathogenicity 197946 rs147707463 19:38995965-38995965 19:38505325-38505325
42 CACNA1S NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)SNV Conflicting interpretations of pathogenicity 161208 rs145910245 1:201020165-201020165 1:201051037-201051037
43 RYR1 NM_000540.2(RYR1):c.5036G>A (p.Arg1679His)SNV Conflicting interpretations of pathogenicity 161364 rs146504767 19:38976331-38976331 19:38485691-38485691
44 RYR1 NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser)SNV Conflicting interpretations of pathogenicity 224382 rs192863857 19:38976612-38976612 19:38485972-38485972
45 RYR1 NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr)SNV Conflicting interpretations of pathogenicity 41910 rs147012990 19:39002893-39002893 19:38512253-38512253
46 RYR1 NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp)SNV Conflicting interpretations of pathogenicity 133217 rs193922826 19:38994959-38994959 19:38504319-38504319
47 RYR1 NM_000540.2(RYR1):c.12879G>C (p.Ala4293=)SNV Conflicting interpretations of pathogenicity 93249 rs193922854 19:39055853-39055853 19:38565213-38565213
48 RYR1 NM_000540.2(RYR1):c.13513G>C (p.Asp4505His)SNV Conflicting interpretations of pathogenicity 93252 rs150396398 19:39057626-39057626 19:38566986-38566986
49 RYR1 NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg)SNV Conflicting interpretations of pathogenicity 93269 rs137933390 19:38965975-38965975 19:38475335-38475335
50 RYR1 NM_000540.2(RYR1):c.131G>A (p.Arg44His)SNV Conflicting interpretations of pathogenicity 133046 rs139161723 19:38931470-38931470 19:38440830-38440830

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

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

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
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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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