Malignant Hyperthermia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Sources

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:

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

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

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

MedGen ⁴¹ C0024591 C1840365 C2930980

EFO ¹⁷ EFO_0009071

UMLS ⁷⁰ C0024591 C1840365 C2930980

Sources

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...

Sources

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:

Sources

Symptoms & Phenotypes for Malignant Hyperthermia 1

Human phenotypes related to Malignant Hyperthermia 1:

³¹ (show all 12)

#	Description	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

Sources

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

Sources

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

Sources

Anatomical Context for Malignant Hyperthermia 1

MalaCards organs/tissues related to Malignant Hyperthermia 1:

⁴⁰

Skeletal Muscle, B Cells, Heart, Lung, Breast, Kidney

Sources

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	D'Arcy CE...Ryan MM	18765655	2008
2	Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. ⁵⁷ ⁶	Monnier N...Lunardi J	16163667	2005
3	Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. ⁶ ⁵⁷	Guis S...Pellissier JF	14732627	2004
4	Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. ⁵⁷ ⁶	Sambuughin N...Nelson TE	11389482	2001
5	Malignant hyperthermia and apparent heat stroke. ⁶ ⁵⁷	Tobin JR...Sambuughin N	11448278	2001
6	Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. ⁶ ⁵⁷	Manning BM...McCarthy TV	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	Otsu K...MacLennan DH	1774073	1991
8	A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. ⁶ ⁵⁷	Gillard EF...MacLennan DH	1774074	1991
9	Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. ⁶ ⁵⁷	Fujii J...MacLennan DH	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	Gonsalves SG...Biesecker LG	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	Creech TB...Zhang L	31016048	2019
12	Correlation of phenotype with genotype and protein structure in RYR1-related disorders. ⁶	Todd JJ...Meilleur KG	30155738	2018
13	Genetic epidemiology of malignant hyperthermia in the UK. ⁶	Miller DM...Hopkins PM	30236257	2018
14	Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. ⁶	Witting N...Behin A	29635721	2018
15	Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. ⁶	Abath Neto O...Zanoteli E	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	Chen W...Chen SRW	28687594	2017
17	Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. ⁶	Murayama T...Sakurai T	27586648	2016
18	Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. ⁶	Todd EJ...Ravenscroft G	26578207	2015
19	Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. ⁶	Fattori F...D'Amico A	25957634	2015
20	Actionable exomic incidental findings in 6503 participants: challenges of variant classification. ⁶	Amendola LM...Jarvik GP	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	Gillies RL...Hockey BM	25735680	2015
22	Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ⁶	Alazami AM...Alkuraya FS	25558065	2015
23	Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. ⁶	Riazi S...Kraeva N	23842196	2014
24	Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. ⁶	Klingler W...Lehmann-Horn F	24433488	2014
25	Genotype-phenotype correlations in recessive RYR1-related myopathies. ⁶	Amburgey K...Dowling JJ	23919265	2013
26	Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. ⁶	Dlamini N...Jungbluth H	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	Sato K...Stowell KM	23459219	2013
28	RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. ⁶	Zhou H...Muntoni F	23553787	2013
29	Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. ⁶	Brandom BW...Muldoon SM	23558838	2013
30	Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. ⁶	Bharucha-Goebel DX...Bonnemann CG	23553484	2013
31	Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. ⁶	Carsana A	23476141	2013
32	Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. ⁶	Klein A...Muntoni F	22473935	2012
33	Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. ⁶	Vladutiu GD...Wortmann RL	21795085	2011
34	Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. ⁶	Duarte ST...Evangelista T	21674524	2011
35	Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. ⁶	Bevilacqua JA...Romero NB	21062345	2011
36	RYR1 mutations are a common cause of congenital myopathies with central nuclei. ⁶	Wilmshurst JM...Jungbluth H	20839240	2010
37	The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. ⁵⁷	Sambuughin N...Muldoon S	19807743	2009
38	Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met. ⁶	Rueffert H...Schober R	19919814	2009
39	A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. ⁶	Carpenter D...Hopkins PM	19645060	2009
40	Genetic variation in RYR1 and malignant hyperthermia phenotypes. ⁶	Carpenter D...Hopkins PM	19648156	2009
41	Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. ⁶	Zullo A...Carsana A	19191333	2009
42	Increasing the number of diagnostic mutations in malignant hyperthermia. ⁶	Levano S...Girard T	19191329	2009
43	Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. ⁶	Gillies RL...Du Sart D	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	Monnier N...Lunardi J	18253926	2008
45	Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. ⁶	Zhou H...Muntoni F	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	Bannister ML...Ikemoto N	16958617	2007
47	Mutations in RYR1 in malignant hyperthermia and central core disease. ⁶	Robinson R...Hopkins P	16917943	2006
48	Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. ⁶	Galli L...Sorrentino V	16835904	2006
49	Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia. ⁶	McKinney LC...Klein MG	16732090	2006
50	Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. ⁶	Treves S...Zorzato F	16084090	2005

Sources

Genes for Malignant Hyperthermia 1

Genes related to Malignant Hyperthermia 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RYR1	Ryanodine Receptor 1	Protein Coding	1744.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	1774073 1862346 1329581 (more) 1774074 8401544 1639409 7511586 7762556 7586638 7889656 8828983 21514828 18765655
2	SLC6A8	Solute Carrier Family 6 Member 8	Protein Coding	400	Pathogenic ⁶

Sources

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

Sources

Expression for Malignant Hyperthermia 1

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

Sources

Pathways for Malignant Hyperthermia 1

Sources

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

Sources for Malignant Hyperthermia 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Malignant Hyperthermia 1 (MHS1)

Aliases & Classifications for Malignant Hyperthermia 1

MalaCards integrated aliases for Malignant Hyperthermia 1:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Malignant Hyperthermia 1

Related Diseases for Malignant Hyperthermia 1

Diseases in the Malignant Hyperthermia family:

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

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

Symptoms & Phenotypes for Malignant Hyperthermia 1

Human phenotypes related to Malignant Hyperthermia 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Malignant Hyperthermia 1:

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

Drugs & Therapeutics for Malignant Hyperthermia 1

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

Genetic Tests for Malignant Hyperthermia 1

Genetic tests related to Malignant Hyperthermia 1:

Anatomical Context for Malignant Hyperthermia 1

MalaCards organs/tissues related to Malignant Hyperthermia 1:

Publications for Malignant Hyperthermia 1

Articles related to Malignant Hyperthermia 1:

Genes for Malignant Hyperthermia 1

Genes related to Malignant Hyperthermia 1 (2 elite genes):

Variations for Malignant Hyperthermia 1

ClinVar genetic disease variations for Malignant Hyperthermia 1:

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

Expression 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:

Sources for Malignant Hyperthermia 1

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