MCID: MLG147
MIFTS: 38

Malignant Hyperthermia 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Malignant Hyperthermia 1

MalaCards integrated aliases for Malignant Hyperthermia 1:

Name: Malignant Hyperthermia 1 53 71
Malignant Hyperthermia Susceptibility Type 1 72 49 69
King Denborough Syndrome 49 28 69
Mhs1 53 49 71
Malignant Hyperthermia, Susceptibility to, 1 53 28
Malignant Hyperthermia Susceptibility 1 53 13
Hyperthermia of Anesthesia 53 49
King-Denborough Syndrome 53 55
Hyperpyrexia, Malignant 53 49
Mhs 53 49
Anesthetic-Induced Malignant Hyperpyrexia in Children 49
Malignant Hyperpyrexia Due to Anesthesia 69
Hyperpyrexia, Malignant; Mh 53
Koussef-Nichols Syndrome 55
King Syndrome 49
Mh 53

Characteristics:

Orphanet epidemiological data:

55
king-denborough syndrome
Inheritance: Autosomal dominant;

OMIM:

53
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:



External Ids:

OMIM 53 145600
Orphanet 55 ORPHA99741
MESH via Orphanet 42 C536883
UMLS via Orphanet 70 C1840365
ICD10 via Orphanet 33 G71.2

Summaries for Malignant Hyperthermia 1

UniProtKB/Swiss-Prot : 71 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 type 1, is related to malignant hyperthermia of anesthesia and malignant hyperthermia, and has symptoms including fever, hypotension and elevated serum creatine phosphokinase. An important gene associated with Malignant Hyperthermia 1 is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle, heart and testes.

NIH Rare Diseases : 49 The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance. Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor geneĀ (RYR1), which has been tied to malignant hyperthermia and central core disease. Last updated: 10/17/2013

OMIM : 53 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 : 72 Malignant hyperthermia (MH) is a type of severe reaction that occurs to particular medications used... more...

Related Diseases for Malignant Hyperthermia 1

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



Diseases related to Malignant Hyperthermia 1

Symptoms & Phenotypes for Malignant Hyperthermia 1

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
muscle rigidity
rhabdomyolysis

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

Neurologic Central Nervous System:
hyperthermia

Hematology:
coagulopathy

Cardiovascular Vascular:
hypotension

Cardiovascular Heart:
tachycardia
cardiac arrhythmias

Metabolic Features:
mixed respiratory and metabolic acidosis


Clinical features from OMIM:

145600

Human phenotypes related to Malignant Hyperthermia 1:

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

UMLS symptoms related to Malignant Hyperthermia 1:


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

Drugs & Therapeutics for Malignant Hyperthermia 1

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 1

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Malignant Hyperthermia 1

Genetic tests related to Malignant Hyperthermia 1:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia, Susceptibility to, 1 28 RYR1
2 King Denborough Syndrome 28

Anatomical Context for Malignant Hyperthermia 1

MalaCards organs/tissues related to Malignant Hyperthermia 1:

38
Skeletal Muscle, Heart, Testes

Publications for Malignant Hyperthermia 1

Articles related to Malignant Hyperthermia 1:

# Title Authors Year
1
Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features. ( 27918309 )
2016
2
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. ( 21514828 )
2011
3
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. ( 18765655 )
2008
4
Anesthetic management of a ventilator-dependent parturient with the King-Denborough syndrome. ( 12826552 )
2003
5
King-Denborough Syndrome: report of two Brazilian cases. ( 12364941 )
2002
6
Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome. ( 1508238 )
1992
7
King-Denborough syndrome: contracture testing and literature review. ( 2907859 )
1986

Variations for Malignant Hyperthermia 1

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

71 (show top 50) (show all 99)
# 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.Pro1787Leu VAR_005599 rs34934920
10 RYR1 p.Gly2060Cys VAR_005600 rs35364374
11 RYR1 p.Arg2163Cys VAR_005601 rs118192175
12 RYR1 p.Arg2163His VAR_005602 rs118192163
13 RYR1 p.Val2168Met VAR_005603 rs118192176
14 RYR1 p.Thr2206Met VAR_005604 rs118192177
15 RYR1 p.Gly2434Arg VAR_005605 rs121918593
16 RYR1 p.Arg2435His VAR_005606 rs28933396
17 RYR1 p.Arg533His VAR_008971 rs144336148
18 RYR1 p.Arg2163Pro VAR_008972 rs118192163
19 RYR1 p.Thr2206Arg VAR_008973 rs118192177
20 RYR1 p.Arg2435Leu VAR_008974 rs28933396
21 RYR1 p.Arg2454Cys VAR_008975 rs193922816
22 RYR1 p.Arg2454His VAR_008976 rs118192122
23 RYR1 p.Arg2458Cys VAR_008977 rs28933397
24 RYR1 p.Arg2458His VAR_008978 rs121918594
25 RYR1 p.Arg44Cys VAR_045695 rs193922748
26 RYR1 p.Arg163Leu VAR_045697 rs193922753
27 RYR1 p.Gly165Arg VAR_045698 rs193922754
28 RYR1 p.Asp166Asn VAR_045699 rs193922755
29 RYR1 p.Arg177Cys VAR_045700 rs193922757
30 RYR1 p.Tyr178Cys VAR_045701
31 RYR1 p.Asp227Val VAR_045703 rs193922760
32 RYR1 p.Arg328Trp VAR_045704 rs193922762
33 RYR1 p.Arg401Cys VAR_045705 rs193922764
34 RYR1 p.Arg401His VAR_045706 rs193922766
35 RYR1 p.Arg401Ser VAR_045707
36 RYR1 p.Arg533Cys VAR_045708 rs193922768
37 RYR1 p.Val2117Leu VAR_045712 rs193922788
38 RYR1 p.Asp2129Glu VAR_045713 rs117886618
39 RYR1 p.Val2214Ile VAR_045714 rs193922795
40 RYR1 p.Val2280Ile VAR_045715 rs193922797
41 RYR1 p.Asn2342Ser VAR_045716 rs147213895
42 RYR1 p.Val2346Met VAR_045718 rs193922799
43 RYR1 p.Glu2348Gly VAR_045720 rs193922801
44 RYR1 p.Ala2350Thr VAR_045721 rs193922802
45 RYR1 p.Arg2355Cys VAR_045722
46 RYR1 p.Ala2367Thr VAR_045723 rs146306934
47 RYR1 p.Ala2428Thr VAR_045725 rs193922809
48 RYR1 p.Asp2431Asn VAR_045726 rs193922810
49 RYR1 p.Ala2437Val VAR_045727 rs193922812
50 RYR1 p.Arg2452Trp VAR_045728 rs118192124

ClinVar genetic disease variations for Malignant Hyperthermia 1:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.1840C> T (p.Arg614Cys) single nucleotide variant Pathogenic,risk factor rs118192172 GRCh37 Chromosome 19, 38948185: 38948185
2 RYR1 NM_000540.2(RYR1): c.742G> A (p.Gly248Arg) single nucleotide variant risk factor rs1801086 GRCh37 Chromosome 19, 38937350: 38937350
3 RYR1 NM_000540.2(RYR1): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic,risk factor rs118192161 GRCh37 Chromosome 19, 38934851: 38934851
4 RYR1 NM_000540.2(RYR1): c.1021G> A (p.Gly341Arg) single nucleotide variant Likely pathogenic,risk factor rs121918592 GRCh37 Chromosome 19, 38939352: 38939352
5 RYR1 NM_000540.2(RYR1): c.7300G> A (p.Gly2434Arg) single nucleotide variant Pathogenic,risk factor rs121918593 GRCh37 Chromosome 19, 38990633: 38990633
6 RYR1 NM_000540.2(RYR1): c.7372C> T (p.Arg2458Cys) single nucleotide variant risk factor rs28933397 GRCh37 Chromosome 19, 38991294: 38991294
7 RYR1 NM_000540.2(RYR1): c.7373G> A (p.Arg2458His) single nucleotide variant Pathogenic,risk factor rs121918594 GRCh37 Chromosome 19, 38991295: 38991295
8 RYR1 NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys) single nucleotide variant Pathogenic,risk factor rs118192175 GRCh37 Chromosome 19, 38985204: 38985204
9 RYR1 NM_000540.2(RYR1): c.6488G> A (p.Arg2163His) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192163 GRCh37 Chromosome 19, 38985205: 38985205
10 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic,risk factor rs118192170 GRCh37 Chromosome 19, 39075629: 39075629
11 RYR1 NM_000540.2(RYR1): c.6502G> A (p.Val2168Met) single nucleotide variant Pathogenic,risk factor rs118192176 GRCh37 Chromosome 19, 38985219: 38985219
12 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192177 GRCh37 Chromosome 19, 38986923: 38986923
13 RYR1 NM_000540.2(RYR1): c.14477C> T (p.Thr4826Ile) single nucleotide variant risk factor rs121918595 GRCh37 Chromosome 19, 39070734: 39070734
14 RYR1 NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys) single nucleotide variant Pathogenic,risk factor rs118192167 GRCh37 Chromosome 19, 39070644: 39070644
15 RYR1 NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser) single nucleotide variant Pathogenic,risk factor rs118192162 GRCh37 Chromosome 19, 38945999: 38945999
16 RYR1 NM_000540.2(RYR1): c.97A> G (p.Lys33Glu) single nucleotide variant Pathogenic rs193922746 GRCh37 Chromosome 19, 38931436: 38931436
17 RYR1 NM_000540.2(RYR1): c.7522C> T (p.Arg2508Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192178 GRCh37 Chromosome 19, 38991538: 38991538
18 RYR1 NM_000540.2(RYR1): c.11958C> G (p.Asp3986Glu) single nucleotide variant Pathogenic rs193922842 GRCh38 Chromosome 19, 38543821: 38543821
19 RYR1 NM_000540.2(RYR1): c.14918C> T (p.Pro4973Leu) single nucleotide variant Likely pathogenic rs146876145 GRCh38 Chromosome 19, 38586140: 38586140
20 RYR1 NM_000540.2(RYR1): c.1589G> A (p.Arg530His) single nucleotide variant Pathogenic rs111888148 GRCh38 Chromosome 19, 38455463: 38455463
21 RYR1 NM_000540.2(RYR1): c.1841G> T (p.Arg614Leu) single nucleotide variant Pathogenic rs193922772 GRCh38 Chromosome 19, 38457546: 38457546
22 RYR1 NM_000540.2(RYR1): c.5183C> T (p.Ser1728Phe) single nucleotide variant Pathogenic rs193922781 GRCh38 Chromosome 19, 38485838: 38485838
23 RYR1 NM_000540.2(RYR1): c.7042_7044delGAG (p.Glu2348del) deletion Pathogenic,risk factor rs121918596 GRCh38 Chromosome 19, 38499649: 38499651
24 RYR1 NM_000540.2(RYR1): c.7048G> A (p.Ala2350Thr) single nucleotide variant Pathogenic rs193922802 GRCh38 Chromosome 19, 38499655: 38499655
25 RYR1 NM_000540.2(RYR1): c.7360C> T (p.Arg2454Cys) single nucleotide variant Likely pathogenic rs193922816 GRCh38 Chromosome 19, 38500642: 38500642
26 RYR1 NM_000540.2(RYR1): c.4076delG (p.Gly1359Alafs) deletion Pathogenic rs794727460 GRCh37 Chromosome 19, 38964327: 38964327
27 RYR1 NM_000540.2(RYR1): c.7463_7475delCAAAGATGTCAGC (p.Pro2488Hisfs) deletion Pathogenic rs794727683 GRCh37 Chromosome 19, 38991479: 38991491
28 RYR1 NM_000540.2(RYR1): c.12499G> T (p.Glu4167Ter) single nucleotide variant Pathogenic rs772494345 GRCh37 Chromosome 19, 39051969: 39051969
29 RYR1 NM_000540.2(RYR1): c.12612G> A (p.Trp4204Ter) single nucleotide variant Pathogenic rs794727982 GRCh37 Chromosome 19, 39052082: 39052082
30 RYR1 NM_000540.2(RYR1): c.12315_12328delAGAAATCCAGTTCC (p.Glu4106Alafs) deletion Pathogenic rs886042171 GRCh37 Chromosome 19, 39051785: 39051798

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....