MCID: MLG143
MIFTS: 18

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


External Ids:

Orphanet 59 ORPHA423
ICD10 via Orphanet 34 T88.3
MESH via Orphanet 45 D008305
UMLS via Orphanet 74 C0024591

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 central core myopathy. 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.

Related Diseases for Malignant Hyperthermia of Anesthesia

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

# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 1 11.3
2 central core myopathy 9.6 CACNA1S RYR1
3 native american myopathy 9.6 CACNA1S RYR1
4 familial periodic paralysis 9.5 CACNA1S RYR1
5 central core disease of muscle 9.5 CACNA1S RYR1
6 malignant hyperthermia susceptibility 9.4 CACNA1S RYR1
7 hypokalemic periodic paralysis, type 1 9.3 CACNA1S RYR1
8 malignant hyperthermia 9.2 CACNA1S RYR1
9 arrhythmogenic right ventricular cardiomyopathy 9.0 CACNA1S RYR1

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

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

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 796)
# 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.1201C> T (p.Arg401Cys) single nucleotide variant Likely pathogenic rs193922764 GRCh38 Chromosome 19, 38451842: 38451842
10 RYR1 NM_000540.2(RYR1): c.1201C> T (p.Arg401Cys) single nucleotide variant Likely pathogenic rs193922764 GRCh37 Chromosome 19, 38942482: 38942482
11 RYR1 NM_000540.2(RYR1): c.14918C> T (p.Pro4973Leu) single nucleotide variant Likely pathogenic rs146876145 GRCh38 Chromosome 19, 38586140: 38586140
12 RYR1 NM_000540.2(RYR1): c.14918C> T (p.Pro4973Leu) single nucleotide variant Likely pathogenic rs146876145 GRCh37 Chromosome 19, 39076780: 39076780
13 RYR1 NM_000540.2(RYR1): c.7360C> T (p.Arg2454Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922816 GRCh38 Chromosome 19, 38500642: 38500642
14 RYR1 NM_000540.2(RYR1): c.7360C> T (p.Arg2454Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922816 GRCh37 Chromosome 19, 38991282: 38991282
15 RYR1 NM_000540.2(RYR1): c.897G> C (p.Val299=) single nucleotide variant Benign/Likely benign rs76854339 GRCh37 Chromosome 19, 38939091: 38939091
16 RYR1 NM_000540.2(RYR1): c.897G> C (p.Val299=) single nucleotide variant Benign/Likely benign rs76854339 GRCh38 Chromosome 19, 38448451: 38448451
17 RYR1 NM_000540.2(RYR1): c.906C> T (p.Asp302=) single nucleotide variant Benign/Likely benign rs145943283 GRCh37 Chromosome 19, 38939100: 38939100
18 RYR1 NM_000540.2(RYR1): c.906C> T (p.Asp302=) single nucleotide variant Benign/Likely benign rs145943283 GRCh38 Chromosome 19, 38448460: 38448460
19 RYR1 NM_000540.2(RYR1): c.1577-6C> G single nucleotide variant Benign/Likely benign rs61586345 GRCh37 Chromosome 19, 38946085: 38946085
20 RYR1 NM_000540.2(RYR1): c.1577-6C> G single nucleotide variant Benign/Likely benign rs61586345 GRCh38 Chromosome 19, 38455445: 38455445
21 RYR1 NM_000540.2(RYR1): c.2091C> T (p.Ala697=) single nucleotide variant Conflicting interpretations of pathogenicity rs138704724 GRCh37 Chromosome 19, 38948856: 38948856
22 RYR1 NM_000540.2(RYR1): c.2091C> T (p.Ala697=) single nucleotide variant Conflicting interpretations of pathogenicity rs138704724 GRCh38 Chromosome 19, 38458216: 38458216
23 RYR1 NM_000540.2(RYR1): c.2919C> T (p.His973=) single nucleotide variant Conflicting interpretations of pathogenicity rs139363830 GRCh37 Chromosome 19, 38956779: 38956779
24 RYR1 NM_000540.2(RYR1): c.2919C> T (p.His973=) single nucleotide variant Conflicting interpretations of pathogenicity rs139363830 GRCh38 Chromosome 19, 38466139: 38466139
25 RYR1 NM_000540.2(RYR1): c.3876C> A (p.Leu1292=) single nucleotide variant Benign/Likely benign rs143750836 GRCh37 Chromosome 19, 38964127: 38964127
26 RYR1 NM_000540.2(RYR1): c.3876C> A (p.Leu1292=) single nucleotide variant Benign/Likely benign rs143750836 GRCh38 Chromosome 19, 38473487: 38473487
27 RYR1 NM_000540.2(RYR1): c.4055C> G (p.Ala1352Gly) single nucleotide variant Benign/Likely benign rs112105381 GRCh37 Chromosome 19, 38964306: 38964306
28 RYR1 NM_000540.2(RYR1): c.4055C> G (p.Ala1352Gly) single nucleotide variant Benign/Likely benign rs112105381 GRCh38 Chromosome 19, 38473666: 38473666
29 RYR1 NM_000540.2(RYR1): c.4894C> T (p.Pro1632Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76537615 GRCh37 Chromosome 19, 38974116: 38974116
30 RYR1 NM_000540.2(RYR1): c.4894C> T (p.Pro1632Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76537615 GRCh38 Chromosome 19, 38483476: 38483476
31 RYR1 NM_000540.2(RYR1): c.5622A> G (p.Glu1874=) single nucleotide variant Benign/Likely benign rs35021937 GRCh37 Chromosome 19, 38979891: 38979891
32 RYR1 NM_000540.2(RYR1): c.5622A> G (p.Glu1874=) single nucleotide variant Benign/Likely benign rs35021937 GRCh38 Chromosome 19, 38489251: 38489251
33 RYR1 NM_000540.2(RYR1): c.6262G> A (p.Glu2088Lys) single nucleotide variant Uncertain significance rs587784378 GRCh37 Chromosome 19, 38983264: 38983264
34 RYR1 NM_000540.2(RYR1): c.6262G> A (p.Glu2088Lys) single nucleotide variant Uncertain significance rs587784378 GRCh38 Chromosome 19, 38492624: 38492624
35 RYR1 NM_000540.2(RYR1): c.7281C> T (p.Ala2427=) single nucleotide variant Benign/Likely benign rs77310009 GRCh37 Chromosome 19, 38990614: 38990614
36 RYR1 NM_000540.2(RYR1): c.7281C> T (p.Ala2427=) single nucleotide variant Benign/Likely benign rs77310009 GRCh38 Chromosome 19, 38499974: 38499974
37 RYR1 NM_000540.2(RYR1): c.8068-14C> T single nucleotide variant Benign/Likely benign rs57376136 GRCh37 Chromosome 19, 38995374: 38995374
38 RYR1 NM_000540.2(RYR1): c.8068-14C> T single nucleotide variant Benign/Likely benign rs57376136 GRCh38 Chromosome 19, 38504734: 38504734
39 RYR1 NM_000540.2(RYR1): c.9882C> T (p.Ser3294=) single nucleotide variant Benign/Likely benign rs142610625 GRCh37 Chromosome 19, 39008195: 39008195
40 RYR1 NM_000540.2(RYR1): c.9882C> T (p.Ser3294=) single nucleotide variant Benign/Likely benign rs142610625 GRCh38 Chromosome 19, 38517555: 38517555
41 RYR1 NM_000540.2(RYR1): c.10259+7G> A single nucleotide variant Benign/Likely benign rs143752962 GRCh37 Chromosome 19, 39010101: 39010101
42 RYR1 NM_000540.2(RYR1): c.10259+7G> A single nucleotide variant Benign/Likely benign rs143752962 GRCh38 Chromosome 19, 38519461: 38519461
43 RYR1 NM_000540.2(RYR1): c.11141+7A> G single nucleotide variant Benign/Likely benign rs78350770 GRCh37 Chromosome 19, 39019704: 39019704
44 RYR1 NM_000540.2(RYR1): c.11141+7A> G single nucleotide variant Benign/Likely benign rs78350770 GRCh38 Chromosome 19, 38529064: 38529064
45 RYR1 NM_000540.2(RYR1): c.11625G> A (p.Ala3875=) single nucleotide variant Benign/Likely benign rs61729397 GRCh37 Chromosome 19, 39028536: 39028536
46 RYR1 NM_000540.2(RYR1): c.11625G> A (p.Ala3875=) single nucleotide variant Benign/Likely benign rs61729397 GRCh38 Chromosome 19, 38537896: 38537896
47 RYR1 NM_000540.2(RYR1): c.12094+11A> G single nucleotide variant Benign rs73933018 GRCh37 Chromosome 19, 39037177: 39037177
48 RYR1 NM_000540.2(RYR1): c.12094+11A> G single nucleotide variant Benign rs73933018 GRCh38 Chromosome 19, 38546537: 38546537
49 RYR1 NM_000540.2(RYR1): c.12624+14C> T single nucleotide variant Benign rs75797287 GRCh37 Chromosome 19, 39052108: 39052108
50 RYR1 NM_000540.2(RYR1): c.12624+14C> T single nucleotide variant Benign rs75797287 GRCh38 Chromosome 19, 38561468: 38561468

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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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