MHS1
MCID: MLG147
MIFTS: 47

Malignant Hyperthermia 1 (MHS1)

Categories: Bone diseases, Cancer 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 57 72
Malignant Hyperthermia, Susceptibility to, 1 57 29 6 17
King Denborough Syndrome 20 29 6 70
King-Denborough Syndrome 57 73 58
Malignant Hyperthermia Susceptibility Type 1 73 70
Malignant Hyperthermia Susceptibility 1 57 13
Hyperthermia of Anesthesia 57 6
Mhs1 57 72
Anesthetic-Induced Malignant Hyperpyrexia in Children 20
Hyperthermia, Malignant, Susceptibility, Type 1 39
Malignant Hyperpyrexia Due to Anesthesia 70
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 20-May-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:

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 71 C1840365
Orphanet 58 ORPHA99741
UMLS 70 C0024591 C1840365 C2930980

Summaries for Malignant Hyperthermia 1

UniProtKB/Swiss-Prot : 72 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, b cells and heart, 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 Susceptibility to malignant hyperthermia (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 20-May-2021)

Wikipedia : 73 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 54)
# 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 10.9
5 malignant hyperthermia 2 10.9
6 malignant hyperthermia 3 10.9
7 malignant hyperthermia 4 10.9
8 malignant hyperthermia 5 10.9
9 malignant hyperthermia 6 10.9
10 disease of mental health 10.4
11 pectus excavatum 10.3
12 ptosis 10.3
13 stac3 disorder 10.3
14 hypotonia 10.3
15 hypertelorism 10.1
16 batten-turner congenital myopathy 10.1
17 scoliosis 10.1
18 respiratory failure 10.1
19 muscular dystrophy, becker type 10.0
20 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
21 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
22 neuromuscular disease 10.0
23 muscular dystrophy 10.0
24 anxiety 10.0
25 major depressive disorder 10.0
26 generalized anxiety disorder 10.0
27 mental depression 10.0
28 myopathy 10.0
29 scarlet fever 10.0
30 depression 10.0
31 neuroleptic malignant syndrome 9.9
32 attention deficit-hyperactivity disorder 9.8
33 hypertension, essential 9.8
34 lung cancer 9.8
35 late-onset retinal degeneration 9.8
36 resting heart rate, variation in 9.8
37 oppositional defiant disorder 9.8
38 malignant hypertension 9.8
39 hepatic coma 9.8
40 conduct disorder 9.8
41 hepatic encephalopathy 9.8
42 azoospermia 9.8
43 pustulosis of palm and sole 9.8
44 severe combined immunodeficiency 9.8
45 psoriasis 9.8
46 encephalopathy 9.8
47 cleft palate, isolated 9.7
48 creatine phosphokinase, elevated serum 9.7
49 noonan syndrome 1 9.7
50 cryptorchidism, unilateral or bilateral 9.7

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 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 20-May-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 20-May-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

Drugs & Therapeutics for Malignant Hyperthermia 1

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, B Cells, Heart, Lung, Breast, Kidney

Publications for Malignant Hyperthermia 1

Articles related to Malignant Hyperthermia 1:

(show top 50) (show all 158)
# Title Authors PMID Year
1
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 6 57
18765655 2008
2
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 57 6
16163667 2005
3
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. 6 57
14732627 2004
4
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 57 6
11389482 2001
5
Malignant hyperthermia and apparent heat stroke. 6 57
11448278 2001
6
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 6 57
9497245 1998
7
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. 6 57
1774073 1991
8
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. 6 57
1774074 1991
9
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. 6 57
1862346 1991
10
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
11
Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia. 6
31016048 2019
12
Correlation of phenotype with genotype and protein structure in RYR1-related disorders. 6
30155738 2018
13
Genetic epidemiology of malignant hyperthermia in the UK. 6
30236257 2018
14
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. 6
29635721 2018
15
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. 6
28818389 2017
16
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease. 6
28687594 2017
17
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. 6
27586648 2016
18
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. 6
26578207 2015
19
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 6
25957634 2015
20
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 6
25637381 2015
21
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. 6
25735680 2015
22
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 6
25558065 2015
23
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. 6
23842196 2014
24
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. 6
24433488 2014
25
Genotype-phenotype correlations in recessive RYR1-related myopathies. 6
23919265 2013
26
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. 6
23628358 2013
27
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. 6
23459219 2013
28
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 6
23553787 2013
29
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 6
23558838 2013
30
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. 6
23553484 2013
31
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. 6
23476141 2013
32
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 6
22473935 2012
33
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. 6
21795085 2011
34
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. 6
21674524 2011
35
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. 6
21062345 2011
36
RYR1 mutations are a common cause of congenital myopathies with central nuclei. 6
20839240 2010
37
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. 57
19807743 2009
38
Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met. 6
19919814 2009
39
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 6
19645060 2009
40
Genetic variation in RYR1 and malignant hyperthermia phenotypes. 6
19648156 2009
41
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. 6
19191333 2009
42
Increasing the number of diagnostic mutations in malignant hyperthermia. 6
19191329 2009
43
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. 6
18564801 2008
44
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 6
18253926 2008
45
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 6
17483490 2007
46
Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area. 6
16958617 2007
47
Mutations in RYR1 in malignant hyperthermia and central core disease. 6
16917943 2006
48
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. 6
16835904 2006
49
Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia. 6
16732090 2006
50
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. 6
16084090 2005

Variations for Malignant Hyperthermia 1

ClinVar genetic disease variations for Malignant Hyperthermia 1:

6 (show top 50) (show all 673)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RYR1 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) SNV Pathogenic 12964 rs118192172 GRCh37: 19:38948185-38948185
GRCh38: 19:38457545-38457545
2 RYR1 NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) SNV Pathogenic 12970 rs121918593 GRCh37: 19:38990633-38990633
GRCh38: 19:38499993-38499993
3 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Pathogenic 12977 rs118192177 GRCh37: 19:38986923-38986923
GRCh38: 19:38496283-38496283
4 RYR1 NM_000540.2(RYR1):c.97A>G (p.Lys33Glu) SNV Pathogenic 55831 rs193922746 GRCh37: 19:38931436-38931436
GRCh38: 19:38440796-38440796
5 RYR1 NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) SNV Pathogenic 133182 rs193922802 GRCh37: 19:38990295-38990295
GRCh38: 19:38499655-38499655
6 RYR1 NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) SNV Pathogenic 133026 rs193922842 GRCh37: 19:39034461-39034461
GRCh38: 19:38543821-38543821
7 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Pathogenic 12977 rs118192177 GRCh37: 19:38986923-38986923
GRCh38: 19:38496283-38496283
8 RYR1 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) SNV Pathogenic 12964 rs118192172 GRCh37: 19:38948185-38948185
GRCh38: 19:38457545-38457545
9 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) SNV Pathogenic 133012 rs193922839 GRCh37: 19:39025415-39025415
GRCh38: 19:38534775-38534775
10 RYR1 NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) SNV Pathogenic 12970 rs121918593 GRCh37: 19:38990633-38990633
GRCh38: 19:38499993-38499993
11 RYR1 NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) SNV Pathogenic 65980 rs118192122 GRCh37: 19:38991283-38991283
GRCh38: 19:38500643-38500643
12 RYR1 NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) SNV Pathogenic 133183 rs193922803 GRCh37: 19:38990310-38990310
GRCh38: 19:38499670-38499670
13 RYR1 NM_000540.2(RYR1):c.10347+1G>A SNV Pathogenic 224998 rs111436401 GRCh37: 19:39013756-39013756
GRCh38: 19:38523116-38523116
14 RYR1 NM_000540.2(RYR1):c.10348-6C>G SNV Pathogenic 132994 rs193922837 GRCh37: 19:39013851-39013851
GRCh38: 19:38523211-38523211
15 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) SNV Pathogenic 161361 rs377178986 GRCh37: 19:39034060-39034060
GRCh38: 19:38543420-38543420
16 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic 12975 rs118192170 GRCh37: 19:39075629-39075629
GRCh38: 19:38584989-38584989
17 RYR1 NM_000540.3(RYR1):c.5995del (p.Arg1999fs) Deletion Pathogenic 637046 rs1600787461 GRCh37: 19:38980895-38980895
GRCh38: 19:38490255-38490255
18 RYR1 NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) SNV Pathogenic 12982 rs63749869 GRCh37: 19:39071080-39071080
GRCh38: 19:38580440-38580440
19 RYR1 NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) SNV Pathogenic 12984 rs118192168 GRCh37: 19:39071043-39071043
GRCh38: 19:38580403-38580403
20 SLC6A8 NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) SNV Pathogenic 975971 GRCh37: X:152960203-152960203
GRCh38: X:153694748-153694748
21 RYR1 NM_000540.3(RYR1):c.1589G>A (p.Arg530His) SNV Pathogenic 133101 rs111888148 GRCh37: 19:38946103-38946103
GRCh38: 19:38455463-38455463
22 RYR1 NM_000540.2(RYR1):c.10348-6C>G SNV Pathogenic 132994 rs193922837 GRCh37: 19:39013851-39013851
GRCh38: 19:38523211-38523211
23 RYR1 NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) SNV Pathogenic 983140 GRCh37: 19:38942483-38942483
GRCh38: 19:38451843-38451843
24 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) SNV Pathogenic 159856 rs200563280 GRCh37: 19:38987106-38987106
GRCh38: 19:38496466-38496466
25 RYR1 NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) SNV Pathogenic 133202 rs193922816 GRCh37: 19:38991282-38991282
GRCh38: 19:38500642-38500642
26 RYR1 NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) SNV Pathogenic/Likely pathogenic 133144 rs193922781 GRCh37: 19:38976478-38976478
GRCh38: 19:38485838-38485838
27 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic/Likely pathogenic 12975 rs118192170 GRCh37: 19:39075629-39075629
GRCh38: 19:38584989-38584989
28 RYR1 NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) SNV risk factor 12976 rs118192176 GRCh37: 19:38985219-38985219
GRCh38: 19:38494579-38494579
29 RYR1 NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) SNV Likely pathogenic 133098 rs146876145 GRCh37: 19:39076780-39076780
GRCh38: 19:38586140-38586140
30 RYR1 NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) SNV risk factor 12978 rs121918595 GRCh37: 19:39070734-39070734
GRCh38: 19:38580094-38580094
31 RYR1 NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) SNV risk factor 12979 rs118192167 GRCh37: 19:39070644-39070644
GRCh38: 19:38580004-38580004
32 RYR1 NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del) Microsatellite risk factor 133180 rs121918596 GRCh37: 19:38990285-38990287
GRCh38: 19:38499645-38499647
33 RYR1 NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp) SNV risk factor 12985 rs193922826 GRCh37: 19:38994959-38994959
GRCh38: 19:38504319-38504319
34 RYR1 NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser) SNV risk factor 12993 rs118192162 GRCh37: 19:38945999-38945999
GRCh38: 19:38455359-38455359
35 RYR1 NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) SNV Likely pathogenic 12971 rs28933397 GRCh37: 19:38991294-38991294
GRCh38: 19:38500654-38500654
36 RYR1 NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) SNV risk factor 12973 rs118192175 GRCh37: 19:38985204-38985204
GRCh38: 19:38494564-38494564
37 RYR1 NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) SNV risk factor 12974 rs118192163 GRCh37: 19:38985205-38985205
GRCh38: 19:38494565-38494565
38 RYR1 NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) SNV risk factor 12965 rs1801086 GRCh37: 19:38937350-38937350
GRCh38: 19:38446710-38446710
39 RYR1 NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) SNV risk factor 12967 rs118192161 GRCh37: 19:38934851-38934851
GRCh38: 19:38444211-38444211
40 RYR1 NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) SNV risk factor 12969 rs121918592 GRCh37: 19:38939352-38939352
GRCh38: 19:38448712-38448712
41 RYR1 NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter) SNV Likely pathogenic 929034 GRCh37: 19:38955328-38955328
GRCh38: 19:38464688-38464688
42 RYR1 NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) SNV Likely pathogenic 872071 GRCh37: 19:38946169-38946169
GRCh38: 19:38455529-38455529
43 RYR1 NM_000540.2(RYR1):c.7060G>A (p.Val2354Met) SNV Likely pathogenic 590580 rs746971794 GRCh37: 19:38990307-38990307
GRCh38: 19:38499667-38499667
44 RYR1 NM_000540.2(RYR1):c.11947C>T (p.Arg3983Cys) SNV Likely pathogenic 650932 rs1600989183 GRCh37: 19:39034450-39034450
GRCh38: 19:38543810-38543810
45 RYR1 NM_000540.2(RYR1):c.6671G>A (p.Arg2224His) SNV Likely pathogenic 478260 rs537994744 GRCh37: 19:38987056-38987056
GRCh38: 19:38496416-38496416
46 RYR1 NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn) SNV Likely pathogenic 803553 rs1600820232 GRCh37: 19:38990320-38990320
GRCh38: 19:38499680-38499680
47 RYR1 NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg) SNV Likely pathogenic 803554 rs1568501059 GRCh37: 19:38990370-38990370
GRCh38: 19:38499730-38499730
48 RYR1 NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) SNV Likely pathogenic 133098 rs146876145 GRCh37: 19:39076780-39076780
GRCh38: 19:38586140-38586140
49 RYR1 NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) SNV Likely pathogenic 803555 rs1600921854 GRCh37: 19:39016072-39016072
GRCh38: 19:38525432-38525432
50 RYR1 NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val) SNV Likely pathogenic 803556 rs1599646668 GRCh37: 19:39061289-39061289
GRCh38: 19:38570649-38570649

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

72 (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

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

Sources for Malignant Hyperthermia 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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