MCID: MLG143
MIFTS: 28

Malignant Hyperthermia of Anesthesia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Malignant Hyperthermia of Anesthesia

MalaCards integrated aliases for Malignant Hyperthermia of Anesthesia:

Name: Malignant Hyperthermia of Anesthesia 59
Hyperthermia of Anesthesia 59

Characteristics:

Orphanet epidemiological data:

59
malignant hyperthermia of anesthesia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Malignant Hyperthermia of Anesthesia

MalaCards based summary : Malignant Hyperthermia of Anesthesia, also known as hyperthermia of anesthesia, is related to malignant hyperthermia 1 and malignant hyperthermia. An important gene associated with Malignant Hyperthermia of Anesthesia is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Circadian entrainment and Cardiac conduction. Affiliated tissues include kidney, heart and skeletal muscle, and related phenotypes are fever and malignant hyperthermia

Related Diseases for Malignant Hyperthermia of Anesthesia

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



Diseases related to Malignant Hyperthermia of Anesthesia

Symptoms & Phenotypes for Malignant Hyperthermia of Anesthesia

Human phenotypes related to Malignant Hyperthermia of Anesthesia:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
2 malignant hyperthermia 59 32 frequent (33%) Frequent (79-30%) HP:0002047
3 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
4 acute hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0006554
5 metabolic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0001942
6 acute kidney injury 59 32 occasional (7.5%) Occasional (29-5%) HP:0001919
7 hyperkalemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002153
8 tachypnea 59 32 frequent (33%) Frequent (79-30%) HP:0002789
9 elevated creatine kinase after exercise 59 32 occasional (7.5%) Occasional (29-5%) HP:0008331
10 necrotizing myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008978
11 hyperphosphatemia 59 32 frequent (33%) Frequent (79-30%) HP:0002905
12 supraventricular tachycardia 59 32 frequent (33%) Frequent (79-30%) HP:0004755
13 ventricular tachycardia 59 32 frequent (33%) Frequent (79-30%) HP:0004756
14 intermittent painful muscle spasms 59 32 frequent (33%) Frequent (79-30%) HP:0011964
15 hypercapnia 59 32 frequent (33%) Frequent (79-30%) HP:0012416
16 cardiomyocyte mitochondrial proliferation 59 32 frequent (33%) Frequent (79-30%) HP:0031320
17 abnormality of skeletal muscles 59 32 frequent (33%) Frequent (79-30%) HP:0040290
18 high-output congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001722
19 myoglobinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002913
20 abnormality of the coagulation cascade 59 32 occasional (7.5%) Occasional (29-5%) HP:0003256
21 ventricular extrasystoles 59 32 occasional (7.5%) Occasional (29-5%) HP:0006682
22 acute rhabdomyolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008942
23 exercise-induced rhabdomyolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0009045
24 abnormality of masseter muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:3000005

Drugs & Therapeutics for Malignant Hyperthermia of Anesthesia

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia of Anesthesia

Genetic Tests for Malignant Hyperthermia of Anesthesia

Anatomical Context for Malignant Hyperthermia of Anesthesia

MalaCards organs/tissues related to Malignant Hyperthermia of Anesthesia:

41
Kidney, Heart, Skeletal Muscle

Publications for Malignant Hyperthermia of Anesthesia

Variations for Malignant Hyperthermia of Anesthesia

ClinVar genetic disease variations for Malignant Hyperthermia of Anesthesia:

6 (show top 50) (show all 971)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.1840C> T (p.Arg614Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192172 GRCh37 Chromosome 19, 38948185: 38948185
2 RYR1 NM_000540.2(RYR1): c.1840C> T (p.Arg614Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192172 GRCh38 Chromosome 19, 38457545: 38457545
3 RYR1 NM_000540.2(RYR1): c.7300G> A (p.Gly2434Arg) single nucleotide variant Pathogenic rs121918593 GRCh37 Chromosome 19, 38990633: 38990633
4 RYR1 NM_000540.2(RYR1): c.7300G> A (p.Gly2434Arg) single nucleotide variant Pathogenic rs121918593 GRCh38 Chromosome 19, 38499993: 38499993
5 RYR1 NM_000540.2(RYR1): c.7372C> T (p.Arg2458Cys) single nucleotide variant Likely pathogenic rs28933397 GRCh37 Chromosome 19, 38991294: 38991294
6 RYR1 NM_000540.2(RYR1): c.7372C> T (p.Arg2458Cys) single nucleotide variant Likely pathogenic rs28933397 GRCh38 Chromosome 19, 38500654: 38500654
7 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh37 Chromosome 19, 38986923: 38986923
8 RYR1 NM_000540.2(RYR1): c.6617C> T (p.Thr2206Met) single nucleotide variant Pathogenic rs118192177 GRCh38 Chromosome 19, 38496283: 38496283
9 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh37 Chromosome 19, 38995998: 38995998
10 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh38 Chromosome 19, 38505358: 38505358
11 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh37 Chromosome 19, 39034444: 39034444
12 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh38 Chromosome 19, 38543804: 38543804
13 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh37 Chromosome 19, 39002893: 39002893
14 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh38 Chromosome 19, 38512253: 38512253
15 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 GRCh37 Chromosome 1, 201030461: 201030461
16 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 GRCh38 Chromosome 1, 201061333: 201061333
17 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 NCBI36 Chromosome 1, 199297084: 199297084
18 RYR1 NM_000540.2(RYR1): c.10119G> A (p.Val3373=) single nucleotide variant Conflicting interpretations of pathogenicity rs140689610 GRCh37 Chromosome 19, 39009954: 39009954
19 RYR1 NM_000540.2(RYR1): c.10119G> A (p.Val3373=) single nucleotide variant Conflicting interpretations of pathogenicity rs140689610 GRCh38 Chromosome 19, 38519314: 38519314
20 RYR1 NM_000540.2(RYR1): c.10188C> T (p.Asp3396=) single nucleotide variant Benign rs2229145 GRCh37 Chromosome 19, 39010023: 39010023
21 RYR1 NM_000540.2(RYR1): c.10188C> T (p.Asp3396=) single nucleotide variant Benign rs2229145 GRCh38 Chromosome 19, 38519383: 38519383
22 RYR1 NM_000540.2(RYR1): c.10218C> T (p.Tyr3406=) single nucleotide variant Benign rs41274330 GRCh37 Chromosome 19, 39010053: 39010053
23 RYR1 NM_000540.2(RYR1): c.10218C> T (p.Tyr3406=) single nucleotide variant Benign rs41274330 GRCh38 Chromosome 19, 38519413: 38519413
24 RYR1 NM_000540.2(RYR1): c.10687-10C> T single nucleotide variant Benign rs77592501 GRCh37 Chromosome 19, 39018277: 39018277
25 RYR1 NM_000540.2(RYR1): c.10687-10C> T single nucleotide variant Benign rs77592501 GRCh38 Chromosome 19, 38527637: 38527637
26 RYR1 NM_000540.2(RYR1): c.10687-7C> T single nucleotide variant Benign/Likely benign rs2960354 GRCh37 Chromosome 19, 39018280: 39018280
27 RYR1 NM_000540.2(RYR1): c.10687-7C> T single nucleotide variant Benign/Likely benign rs2960354 GRCh38 Chromosome 19, 38527640: 38527640
28 RYR1 NM_000540.2(RYR1): c.1077T> C (p.Ala359=) single nucleotide variant Benign rs10406027 GRCh37 Chromosome 19, 38939408: 38939408
29 RYR1 NM_000540.2(RYR1): c.1077T> C (p.Ala359=) single nucleotide variant Benign rs10406027 GRCh38 Chromosome 19, 38448768: 38448768
30 RYR1 NM_000540.2(RYR1): c.10941C> G (p.His3647Gln) single nucleotide variant Benign/Likely benign rs114351116 GRCh37 Chromosome 19, 39019242: 39019242
31 RYR1 NM_000540.2(RYR1): c.10941C> G (p.His3647Gln) single nucleotide variant Benign/Likely benign rs114351116 GRCh38 Chromosome 19, 38528602: 38528602
32 RYR1 NM_000540.2(RYR1): c.12741C> T (p.Ala4247=) single nucleotide variant Benign/Likely benign rs80039127 GRCh37 Chromosome 19, 39055715: 39055715
33 RYR1 NM_000540.2(RYR1): c.12741C> T (p.Ala4247=) single nucleotide variant Benign/Likely benign rs80039127 GRCh38 Chromosome 19, 38565075: 38565075
34 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh37 Chromosome 19, 39055853: 39055853
35 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh38 Chromosome 19, 38565213: 38565213
36 RYR1 NM_000540.2(RYR1): c.12990C> T (p.Thr4330=) single nucleotide variant Benign/Likely benign rs184450380 GRCh37 Chromosome 19, 39055964: 39055964
37 RYR1 NM_000540.2(RYR1): c.12990C> T (p.Thr4330=) single nucleotide variant Benign/Likely benign rs184450380 GRCh38 Chromosome 19, 38565324: 38565324
38 RYR1 NM_000540.2(RYR1): c.13317C> T (p.Ala4439=) single nucleotide variant Benign/Likely benign rs113579185 GRCh37 Chromosome 19, 39056291: 39056291
39 RYR1 NM_000540.2(RYR1): c.13317C> T (p.Ala4439=) single nucleotide variant Benign/Likely benign rs113579185 GRCh38 Chromosome 19, 38565651: 38565651
40 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh37 Chromosome 19, 39057626: 39057626
41 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh38 Chromosome 19, 38566986: 38566986
42 RYR1 NM_000540.2(RYR1): c.13671C> G (p.Ser4557=) single nucleotide variant Benign rs35959206 GRCh37 Chromosome 19, 39061258: 39061258
43 RYR1 NM_000540.2(RYR1): c.13671C> G (p.Ser4557=) single nucleotide variant Benign rs35959206 GRCh38 Chromosome 19, 38570618: 38570618
44 RYR1 NM_000540.2(RYR1): c.14256A> C (p.Thr4752=) single nucleotide variant Benign rs1468571 GRCh37 Chromosome 19, 39068641: 39068641
45 RYR1 NM_000540.2(RYR1): c.14256A> C (p.Thr4752=) single nucleotide variant Benign rs1468571 GRCh38 Chromosome 19, 38578001: 38578001
46 RYR1 NM_000540.2(RYR1): c.14505G> A (p.Gly4835=) single nucleotide variant Conflicting interpretations of pathogenicity rs118126378 GRCh37 Chromosome 19, 39070762: 39070762
47 RYR1 NM_000540.2(RYR1): c.14505G> A (p.Gly4835=) single nucleotide variant Conflicting interpretations of pathogenicity rs118126378 GRCh38 Chromosome 19, 38580122: 38580122
48 RYR1 NM_000540.2(RYR1): c.1668G> A (p.Ser556=) single nucleotide variant Benign rs2288888 GRCh37 Chromosome 19, 38946182: 38946182
49 RYR1 NM_000540.2(RYR1): c.1668G> A (p.Ser556=) single nucleotide variant Benign rs2288888 GRCh38 Chromosome 19, 38455542: 38455542
50 RYR1 NM_000540.2(RYR1): c.2286C> T (p.Pro762=) single nucleotide variant Benign rs3745847 GRCh37 Chromosome 19, 38949904: 38949904

Expression for Malignant Hyperthermia of Anesthesia

Search GEO for disease gene expression data for Malignant Hyperthermia of Anesthesia.

Pathways for Malignant Hyperthermia of Anesthesia

Pathways related to Malignant Hyperthermia of Anesthesia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 CACNA1S RYR1
2
Show member pathways
12.2 CACNA1S RYR1
3
Show member pathways
12.15 CACNA1S RYR1
4
Show member pathways
12.07 CACNA1S RYR1
5
Show member pathways
11.9 CACNA1S RYR1
6
Show member pathways
11.86 CACNA1S RYR1
7
Show member pathways
11.78 CACNA1S RYR1
8
Show member pathways
11.53 CACNA1S RYR1
9 11.31 CACNA1S RYR1
10 10.65 CACNA1S RYR1
11 9.7 CACNA1S RYR1

GO Terms for Malignant Hyperthermia of Anesthesia

Cellular components related to Malignant Hyperthermia of Anesthesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.16 CACNA1S RYR1
2 T-tubule GO:0030315 8.96 CACNA1S RYR1
3 I band GO:0031674 8.62 CACNA1S RYR1

Biological processes related to Malignant Hyperthermia of Anesthesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.37 CACNA1S RYR1
2 transmembrane transport GO:0055085 9.32 CACNA1S RYR1
3 calcium ion transport GO:0006816 9.26 CACNA1S RYR1
4 calcium ion transmembrane transport GO:0070588 9.16 CACNA1S RYR1
5 muscle contraction GO:0006936 8.96 CACNA1S RYR1
6 cellular response to caffeine GO:0071313 8.62 CACNA1S RYR1

Molecular functions related to Malignant Hyperthermia of Anesthesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.16 CACNA1S RYR1
2 calcium channel activity GO:0005262 8.96 CACNA1S RYR1
3 voltage-gated calcium channel activity GO:0005245 8.62 CACNA1S RYR1

Sources for Malignant Hyperthermia of Anesthesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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