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

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

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Neuronal diseases Bone diseases Muscle diseases Respiratory diseases Blood 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 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

MedGen ⁴¹ C0024591 C1840365 C2930980

EFO ¹⁷ EFO_0009071

UMLS ⁷¹ C0024591 C1840365 C2930980

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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 fever and elevated serum creatine kinase

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...

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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 101)

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

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

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Symptoms & Phenotypes for Malignant Hyperthermia 1

Human phenotypes related to Malignant Hyperthermia 1:

³¹ (show all 12)

#	Description	HPO Source Accession
1	fever ³¹	HP:0001945
2	elevated serum creatine kinase ³¹	HP:0003236
3	malignant hyperthermia ³¹	HP:0002047
4	hyperkalemia ³¹	HP:0002153
5	rigidity ³¹	HP:0002063
6	tachycardia ³¹	HP:0001649
7	hypotension ³¹	HP:0002615
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:

⁵⁶

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

Cardiovascular Vascular:
hypotension

Metabolic Features:
mixed respiratory and metabolic acidosis

Hematology:
coagulopathy

Cardiovascular Heart:
tachycardia
cardiac arrhythmias

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

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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

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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

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Anatomical Context for Malignant Hyperthermia 1

MalaCards organs/tissues related to Malignant Hyperthermia 1:

⁴⁰

Skeletal Muscle, Testes, Heart

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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	D'Arcy CE...Ryan MM	18765655	2008
2	Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. ⁶ ⁵⁶	Guis S...Pellissier JF	14732627	2004
3	Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. ⁵⁶ ⁶	Sambuughin N...Nelson TE	11389482	2001
4	Malignant hyperthermia and apparent heat stroke. ⁶ ⁵⁶	Tobin JR...Sambuughin N	11448278	2001
5	Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. ⁵⁶ ⁶	Manning BM...McCarthy TV	9497245	1998
6	Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. ⁵⁶ ⁶	Otsu K...MacLennan DH	1774073	1991
7	A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. ⁶ ⁵⁶	Gillard EF...MacLennan DH	1774074	1991
8	Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. ⁶ ⁵⁶	Fujii J...MacLennan DH	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	Gonsalves SG...Biesecker LG	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	Kalia SS...Miller DT	27854360	2017
11	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ⁶	ACMG Board of Directors	25356965	2015
12	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ⁶	Green RC...American College of Medical Genetics and Genomics	23788249	2013
13	The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. ⁵⁶	Sambuughin N...Muldoon S	19807743	2009
14	Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. ⁵⁶	Monnier N...Lunardi J	16163667	2005
15	Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. ⁶	Sei Y...Muldoon S	14870754	2004
16	Malignant Hyperthermia Susceptibility ⁶	Rosenberg H...Dirksen R	20301325	2003
17	Several interacting genes influence the malignant hyperthermia phenotype. ⁵⁶	Robinson R...Shaw MA	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	Wehner M...Olthoff D	12220451	2002
19	Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test. ⁵⁶	Anetseder M...Roewer N	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	Tilgen N...Treves S	11741831	2001
21	Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. ⁶	Avila G...Dirksen RT	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	Monnier N...Lunardi J	11063719	2000
23	Multiple interacting gene products may influence susceptibility to malignant hyperthermia. ⁵⁶	Robinson RL...Shaw MA	11415515	2000
24	A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. ⁶	Brown RL...Stowell KM	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	Lynch PJ...McCarthy TV	10097181	1999
26	Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia. ⁶	Stewart SL...Fletcher JE	9831351	1998
27	King syndrome: further clinical variability and review of the literature. ⁵⁶	Graham GE...Der Kaloustian VM	9677061	1998
28	Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. ⁶	Manning BM...McCarthy TV	9450902	1998
29	Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. ⁶	Monsieurs KG...Heytens L	9543323	1998
30	Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. ⁶	Fagerlund TH...Berg K	9520251	1997
31	To fire the train: a second malignant-hyperthermia gene. ⁵⁶	Hogan K	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	Monnier N...Lunardi J	9199552	1997
33	The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. ⁶	Adeokun AM...Curran JL	9106529	1997
34	Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. ⁶	Richter M...Herrmann-Frank A	9030597	1997
35	Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers. ⁵⁶	Fagerlund TH...Berg K	9147872	1996
36	The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. ⁶	Phillips MS...MacLennan DH	8661021	1996
37	RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. ⁶	Fagerlund T...Berg K	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	O'Brien RO...Foster PS	8592342	1995
39	A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. ⁶	Fagerlund TH...Berg K	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	Deufel T...Hartung EJ	7762556	1995
41	A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. ⁶	Alestrom A...Berg K	7554356	1995
42	Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed. ⁵⁶	Islander G...Ranklev-Twetman E	7767091	1995
43	Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. ⁶	Fagerlund T...Berg K	7889656	1994
44	Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. ⁶	Keating KE...Heffron JJ	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	Quane KA...McCarthy TV	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	Otsu K...Tada M	7511586	1994
47	Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. ⁶	Quane KA...Adnet P	8012359	1994
48	Fatal inherited rhabdomyolysis and malignant hyperthermia. ⁵⁶	Denborough MA...Hopkinson KC	7904690	1994
49	Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. ⁶	Quane KA...Ording H	8220423	1993
50	The genetics of malignant hyperthermia. ⁵⁶	Ball SP...Johnson KJ	8383206	1993

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Genes for Malignant Hyperthermia 1

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RYR1	Ryanodine Receptor 1	Protein Coding	1744.53	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ Drug response ⁶ GeneCards inferred via : Disorders Variants (show sections)	1774073 14870754 1354642 (more) 1639409 10097181 18765655 7849712 7889656 8012359 9831351 1774074 11389482 11063719 11274444 9497245 9543323 10888602 8220423 20301325 8828983 30499100 1862346 11448278 9106529 7554356 12220451 14732627 7829078 27854360 1329581 7586638 8401544 8592342 7511586 7762556 11741831 23788249 9450902 8661021 25356965 9520251 9030597

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Variations for Malignant Hyperthermia 1

ClinVar genetic disease variations for Malignant Hyperthermia 1:

⁶ (show top 50) (show all 539) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RYR1	NM_000540.3(RYR1):c.5995del (p.Arg1999fs)	deletion	Pathogenic	637046		19:38980895-38980895	19:38490255-38490255
2	RYR1	NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	SNV	Pathogenic	12977	rs118192177	19:38986923-38986923	19:38496283-38496283
3	RYR1	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	SNV	Pathogenic	159856	rs200563280	19:38987106-38987106	19:38496466-38496466
4	RYR1	NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu)	SNV	Pathogenic/Likely pathogenic	133026	rs193922842	19:39034461-39034461	19:38543821-38543821
5	RYR1	NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe)	SNV	Pathogenic/Likely pathogenic	133144	rs193922781	19:38976478-38976478	19:38485838-38485838
6	RYR1	NM_000540.2(RYR1):c.10348-6C>G	SNV	Pathogenic/Likely pathogenic	132994	rs193922837	19:39013851-39013851	19:38523211-38523211
7	RYR1	NM_000540.2(RYR1):c.11947C>T (p.Arg3983Cys)	SNV	Pathogenic/Likely pathogenic	650932		19:39034450-39034450	19:38543810-38543810
8	RYR1	NM_000540.2(RYR1):c.11314C>T (p.Arg3772Trp)	SNV	Pathogenic/Likely pathogenic	478159	rs763112609	19:39025414-39025414	19:38534774-38534774
9	RYR1	NM_000540.2(RYR1):c.10347+1G>A	SNV	Pathogenic/Likely pathogenic	224998	rs111436401	19:39013756-39013756	19:38523116-38523116
10	RYR1	NM_000540.2(RYR1):c.7836-1G>A	SNV	Likely pathogenic	560259	rs1568507354	19:38993519-38993519	19:38502879-38502879
11	RYR1	NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	SNV	drug response	12978	rs121918595	19:39070734-39070734	19:38580094-38580094
12	RYR1	NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)	SNV	drug response	12979	rs118192167	19:39070644-39070644	19:38580004-38580004
13	RYR1	NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	SNV	drug response	12982	rs63749869	19:39071080-39071080	19:38580440-38580440
14	RYR1	NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	SNV	drug response	12984	rs118192168	19:39071043-39071043	19:38580403-38580403
15	RYR1	NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)	SNV	drug response	12993	rs118192162	19:38945999-38945999	19:38455359-38455359
16	RYR1	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	SNV	drug response	12964	rs118192172	19:38948185-38948185	19:38457545-38457545
17	RYR1	NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)	SNV	drug response	12965	rs1801086	19:38937350-38937350	19:38446710-38446710
18	RYR1	NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	SNV	drug response	12967	rs118192161	19:38934851-38934851	19:38444211-38444211
19	RYR1	NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	SNV	drug response	12969	rs121918592	19:38939352-38939352	19:38448712-38448712
20	RYR1	NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	SNV	drug response	12970	rs121918593	19:38990633-38990633	19:38499993-38499993
21	RYR1	NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	SNV	drug response	12971	rs28933397	19:38991294-38991294	19:38500654-38500654
22	RYR1	NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	SNV	drug response	12972	rs121918594	19:38991295-38991295	19:38500655-38500655
23	RYR1	NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	SNV	drug response	12973	rs118192175	19:38985204-38985204	19:38494564-38494564
24	RYR1	NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	SNV	drug response	12974	rs118192163	19:38985205-38985205	19:38494565-38494565
25	RYR1	NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	SNV	drug response	12975	rs118192170	19:39075629-39075629	19:38584989-38584989
26	RYR1	NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	SNV	drug response	12976	rs118192176	19:38985219-38985219	19:38494579-38494579
27	RYR1	NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn)	SNV	Likely pathogenic	803553		19:38990320-38990320	19:38499680-38499680
28	RYR1	NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg)	SNV	Likely pathogenic	803554		19:38990370-38990370	19:38499730-38499730
29	RYR1	NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)	SNV	Likely pathogenic	803555		19:39016072-39016072	19:38525432-38525432
30	RYR1	NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)	SNV	Likely pathogenic	803556		19:39061289-39061289	19:38570649-38570649
31	RYR1	NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)	SNV	Likely pathogenic	803557		19:39062830-39062830	19:38572190-38572190
32	RYR1	NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	SNV	drug response	65980	rs118192122	19:38991283-38991283	19:38500643-38500643
33	RYR1	NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del)	short repeat	drug response	133180	rs121918596	19:38990285-38990287	19:38499645-38499647
34	RYR1	NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)	SNV	drug response	133182	rs193922802	19:38990295-38990295	19:38499655-38499655
35	RYR1	NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	SNV	drug response	133183	rs193922803	19:38990310-38990310	19:38499670-38499670
36	RYR1	NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	SNV	drug response	133193	rs193922809	19:38990615-38990615	19:38499975-38499975
37	RYR1	NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	SNV	drug response	133101	rs111888148	19:38946103-38946103	19:38455463-38455463
38	RYR1	NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	SNV	drug response	133103	rs144336148	19:38946112-38946112	19:38455472-38455472
39	RYR1	NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	SNV	Likely pathogenic	133098	rs146876145	19:39076780-39076780	19:38586140-38586140
40	RYR1	NM_000540.2(RYR1):c.152C>A (p.Thr51Asn)	SNV	Conflicting interpretations of pathogenicity	133099	rs193922749	19:38931491-38931491	19:38440851-38440851
41	RYR1	NM_000540.2(RYR1):c.2712G>A (p.Pro904=)	SNV	Conflicting interpretations of pathogenicity	133120	rs139339574	19:38954416-38954416	19:38463776-38463776
42	RYR1	NM_000540.2(RYR1):c.2996G>A (p.Arg999His)	SNV	Conflicting interpretations of pathogenicity	133122	rs180714609	19:38956856-38956856	19:38466216-38466216
43	RYR1	NM_000540.2(RYR1):c.2121C>A (p.Gly707=)	SNV	Conflicting interpretations of pathogenicity	133111	rs146104858	19:38948886-38948886	19:38458246-38458246
44	RYR1	NM_000540.2(RYR1):c.1218C>T (p.Thr406=)	SNV	Conflicting interpretations of pathogenicity	133034	rs3745846	19:38942499-38942499	19:38451859-38451859
45	RYR1	NM_000540.2(RYR1):c.131G>A (p.Arg44His)	SNV	Conflicting interpretations of pathogenicity	133046	rs139161723	19:38931470-38931470	19:38440830-38440830
46	RYR1	NM_000540.2(RYR1):c.13617C>T (p.Gly4539=)	SNV	Conflicting interpretations of pathogenicity	133052	rs2302296	19:39058515-39058515	19:38567875-38567875
47	RYR1	NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)	SNV	Conflicting interpretations of pathogenicity	133053	rs193922860	19:39062846-39062846	19:38572206-38572206
48	RYR1	NM_000540.2(RYR1):c.1453A>G (p.Met485Val)	SNV	Conflicting interpretations of pathogenicity	133076	rs147723844	19:38945887-38945887	19:38455247-38455247
49	RYR1	NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr)	SNV	Conflicting interpretations of pathogenicity	133187	rs146306934	19:38990346-38990346	19:38499706-38499706
50	RYR1	NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys)	SNV	Conflicting interpretations of pathogenicity	133124	rs111272095	19:38956987-38956987	19:38466347-38466347

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

Sources

Expression for Malignant Hyperthermia 1

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

Sources

Pathways for Malignant Hyperthermia 1

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GO Terms for Malignant Hyperthermia 1

Sources

Sources for Malignant Hyperthermia 1

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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:

Drugs & Therapeutics for Malignant Hyperthermia 1

Interventional clinical trials:

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

Genetic Tests for Malignant Hyperthermia 1

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Anatomical Context for Malignant Hyperthermia 1

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Publications for Malignant Hyperthermia 1

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Genes for Malignant Hyperthermia 1

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

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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

Sources for Malignant Hyperthermia 1

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