MHS5
MCID: MLG151
MIFTS: 28

Malignant Hyperthermia 5 (MHS5)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Malignant Hyperthermia 5

MalaCards integrated aliases for Malignant Hyperthermia 5:

Name: Malignant Hyperthermia 5 57 74
Malignant Hyperthermia Susceptibility Type 5 75 53 29 6 72
Malignant Hyperthermia Susceptibility 5 57 29 13 6
Mhs5 57 53 74
Hyperthermia, Malignant, Susceptibility, Type 5 40
Malignant Hyperthermia, Susceptibility to, 5 57
Malignant Hyperpyrexia Susceptibility Type 5 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
two families have been reported (last curated december 2016)


HPO:

32
malignant hyperthermia 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

UMLS 72 C2930984

Summaries for Malignant Hyperthermia 5

UniProtKB/Swiss-Prot : 74 Malignant hyperthermia 5: Autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants.

MalaCards based summary : Malignant Hyperthermia 5, is also known as malignant hyperthermia susceptibility type 5. An important gene associated with Malignant Hyperthermia 5 is CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S). Affiliated tissues include heart, testes and skeletal muscle, and related phenotypes are fever and tachycardia

Wikipedia : 75 Malignant hyperthermia (MH) is a type of severe reaction that occurs to particular medications used... more...

More information from OMIM: 601887 PS145600

Related Diseases for Malignant Hyperthermia 5

Symptoms & Phenotypes for Malignant Hyperthermia 5

Human phenotypes related to Malignant Hyperthermia 5:

32
# Description HPO Frequency HPO Source Accession
1 fever 32 HP:0001945
2 tachycardia 32 HP:0001649
3 hypercapnia 32 HP:0012416

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperthermia

Muscle Soft Tissue:
contracture response to halothane on muscle biopsy testing
contracture response to caffeine on muscle biopsy testing

Cardiovascular Heart:
tachycardia during anesthesia
hypercapnia during anesthesia
extrasystoles during anesthesia

Clinical features from OMIM:

601887

Drugs & Therapeutics for Malignant Hyperthermia 5

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 5

Genetic Tests for Malignant Hyperthermia 5

Genetic tests related to Malignant Hyperthermia 5:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility Type 5 29 CACNA1S
2 Malignant Hyperthermia Susceptibility 5 29

Anatomical Context for Malignant Hyperthermia 5

MalaCards organs/tissues related to Malignant Hyperthermia 5:

41
Heart, Testes, Skeletal Muscle

Publications for Malignant Hyperthermia 5

Articles related to Malignant Hyperthermia 5:

# Title Authors PMID Year
1
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. 8 71
9199552 1997
2
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes. 71
30499100 2019
3
Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 71
14870754 2004
4
Malignant Hyperthermia Susceptibility 71
20301325 2003
5
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. 71
11260227 2001
6
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. 8
9175745 1997
7
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia. 38
28011884 2017
8
[Early recognition of malignant hyperthermia using capnometry]. 38
2106275 1990

Variations for Malignant Hyperthermia 5

ClinVar genetic disease variations for Malignant Hyperthermia 5:

6 (show top 50) (show all 293)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1S NM_000069.3(CACNA1S): c.1503C> A (p.Cys501Ter) single nucleotide variant Pathogenic rs762294904 1:201047123-201047123 1:201077995-201077995
2 CACNA1S NM_000069.3(CACNA1S): c.564del (p.Ile189fs) deletion Pathogenic rs1553252746 1:201060898-201060898 1:201091770-201091770
3 CACNA1S NM_000069.3(CACNA1S): c.3716G> A (p.Arg1239His) single nucleotide variant Pathogenic rs28930068 1:201022666-201022666 1:201053538-201053538
4 CACNA1S NM_000069.3(CACNA1S): c.3715C> G (p.Arg1239Gly) single nucleotide variant Pathogenic rs28930069 1:201022667-201022667 1:201053539-201053539
5 CACNA1S NM_000069.3(CACNA1S): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs80338777 1:201047043-201047043 1:201077915-201077915
6 CACNA1S NM_000069.3(CACNA1S): c.1796del (p.Asn599fs) deletion Pathogenic 1:201046079-201046079 1:201076951-201076951
7 CACNA1S NM_000069.3(CACNA1S): c.4871_4874del (p.Asn1624fs) deletion Pathogenic 1:201012583-201012586 1:201043457-201043460
8 CACNA1S NM_000069.3(CACNA1S): c.4025C> A (p.Ser1342Ter) single nucleotide variant Pathogenic 1:201020200-201020200 1:201051072-201051072
9 CACNA1S NM_000069.3(CACNA1S): c.2970G> A (p.Trp990Ter) single nucleotide variant Pathogenic 1:201031155-201031155 1:201062027-201062027
10 CACNA1S NM_000069.3(CACNA1S): c.2812del (p.Leu938fs) deletion Pathogenic 1:201035007-201035007 1:201065880-201065880
11 CACNA1S NM_000069.3(CACNA1S): c.1847G> A (p.Trp616Ter) single nucleotide variant Pathogenic 1:201044724-201044724 1:201075596-201075596
12 CACNA1S NM_000069.3(CACNA1S): c.732del (p.Cys245fs) deletion Pathogenic 1:201058554-201058554 1:201089428-201089428
13 CACNA1S NM_000069.3(CACNA1S): c.897C> G (p.Tyr299Ter) single nucleotide variant Pathogenic 1:201058389-201058389 1:201089261-201089261
14 CACNA1S NM_000069.3(CACNA1S): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201998231 1:201061139-201061139 1:201092011-201092011
15 CACNA1S NM_000069.3(CACNA1S): c.3257G> A (p.Arg1086His) single nucleotide variant risk factor rs1800559 1:201029943-201029943 1:201060815-201060815
16 CACNA1S NM_000069.3(CACNA1S): c.4798-2A> G single nucleotide variant Likely pathogenic 1:201012661-201012661 1:201043533-201043533
17 CACNA1S NM_000069.3(CACNA1S): c.3525+1G> A single nucleotide variant Likely pathogenic 1:201028316-201028316 1:201059188-201059188
18 CACNA1S NM_000069.3(CACNA1S): c.2854-2A> C single nucleotide variant Likely pathogenic 1:201031644-201031644 1:201062516-201062516
19 CACNA1S NM_000069.3(CACNA1S): c.520C> T (p.Arg174Trp) single nucleotide variant drug response rs772226819 1:201061121-201061121 1:201091993-201091993
20 CACNA1S NM_000069.3(CACNA1S): c.4113+1G> C single nucleotide variant Likely pathogenic 1:201020111-201020111 1:201050983-201050983
21 CACNA1S NM_000069.3(CACNA1S): c.743C> T (p.Thr248Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200665694 1:201058543-201058543 1:201089415-201089415
22 CACNA1S NM_000069.3(CACNA1S): c.598G> A (p.Ala200Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs527702358 1:201060864-201060864 1:201091736-201091736
23 CACNA1S NM_000069.3(CACNA1S): c.1493G> T (p.Arg498Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150590855 1:201047133-201047133 1:201078005-201078005
24 CACNA1S NM_000069.3(CACNA1S): c.4882C> T (p.Leu1628Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200848930 1:201012575-201012575 1:201043447-201043447
25 CACNA1S NM_000069.3(CACNA1S): c.2754G> A (p.Val918=) single nucleotide variant Conflicting interpretations of pathogenicity rs150708636 1:201035065-201035065 1:201065937-201065937
26 CACNA1S NM_000069.3(CACNA1S): c.3628G> A (p.Gly1210Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148870919 1:201023671-201023671 1:201054543-201054543
27 CACNA1S NM_000069.3(CACNA1S): c.4346T> G (p.Val1449Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs79011683 1:201017805-201017805 1:201048677-201048677
28 CACNA1S NM_000069.3(CACNA1S): c.4752G> A (p.Leu1584=) single nucleotide variant Conflicting interpretations of pathogenicity rs763069723 1:201013501-201013501 1:201044373-201044373
29 CACNA1S NM_000069.3(CACNA1S): c.369T> C (p.Asn123=) single nucleotide variant Conflicting interpretations of pathogenicity rs148680317 1:201063039-201063039 1:201093911-201093911
30 CACNA1S NM_000069.3(CACNA1S): c.4747G> A (p.Glu1583Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148273582 1:201013506-201013506 1:201044378-201044378
31 CACNA1S NM_000069.3(CACNA1S): c.2691G> T (p.Arg897Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80338779 1:201035411-201035411 1:201066283-201066283
32 CACNA1S NM_000069.3(CACNA1S): c.4060A> T (p.Thr1354Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145910245 1:201020165-201020165 1:201051037-201051037
33 CACNA1S NM_000069.3(CACNA1S): c.530C> T (p.Ser177Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141204958 1:201061111-201061111 1:201091983-201091983
34 CACNA1S NM_000069.3(CACNA1S): c.2992G> A (p.Asp998Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116347156 1:201031133-201031133 1:201062005-201062005
35 CACNA1S NM_000069.3(CACNA1S): c.540T> C (p.Pro180=) single nucleotide variant Conflicting interpretations of pathogenicity rs138245131 1:201061101-201061101 1:201091973-201091973
36 CACNA1S NM_000069.3(CACNA1S): c.773G> T (p.Gly258Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35534614 1:201058513-201058513 1:201089385-201089385
37 CACNA1S NM_000069.3(CACNA1S): c.3414+3A> T single nucleotide variant Conflicting interpretations of pathogenicity rs892742196 1:201029783-201029783 1:201060655-201060655
38 CACNA1S NM_000069.3(CACNA1S): c.3287G> A (p.Arg1096His) single nucleotide variant Conflicting interpretations of pathogenicity rs142102094 1:201029913-201029913 1:201060785-201060785
39 CACNA1S NM_000069.3(CACNA1S): c.5104C> T (p.Arg1702Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs550371466 1:201010662-201010662 1:201041534-201041534
40 CACNA1S NM_000069.3(CACNA1S): c.2099C> T (p.Thr700Met) single nucleotide variant Uncertain significance rs147112322 1:201042735-201042735 1:201073607-201073607
41 CACNA1S NM_000069.3(CACNA1S): c.1882G> A (p.Gly628Ser) single nucleotide variant Uncertain significance rs768445692 1:201044689-201044689 1:201075561-201075561
42 CACNA1S NM_000069.3(CACNA1S): c.619G> A (p.Val207Ile) single nucleotide variant Uncertain significance rs767571919 1:201060843-201060843 1:201091715-201091715
43 CACNA1S NM_000069.3(CACNA1S): c.262A> G (p.Lys88Glu) single nucleotide variant Uncertain significance rs140330831 1:201063146-201063146 1:201094018-201094018
44 CACNA1S NM_000069.3(CACNA1S): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs150590855 1:201047133-201047133 1:201078005-201078005
45 CACNA1S NM_000069.3(CACNA1S): c.4916A> T (p.Glu1639Val) single nucleotide variant Uncertain significance rs146885451 1:201012541-201012541 1:201043413-201043413
46 CACNA1S NM_000069.3(CACNA1S): c.2048G> A (p.Arg683His) single nucleotide variant Uncertain significance rs141031133 1:201043649-201043649 1:201074521-201074521
47 CACNA1S NM_000069.3(CACNA1S): c.1370C> T (p.Pro457Leu) single nucleotide variant Uncertain significance rs1450678337 1:201052313-201052313 1:201083185-201083185
48 CACNA1S NM_000069.3(CACNA1S): c.1166A> T (p.Asp389Val) single nucleotide variant Uncertain significance rs148770452 1:201054144-201054144 1:201085016-201085016
49 CACNA1S NM_000069.3(CACNA1S): c.4962C> G (p.Asn1654Lys) single nucleotide variant Uncertain significance rs370339547 1:201012495-201012495 1:201043367-201043367
50 CACNA1S NM_000069.3(CACNA1S): c.3416A> C (p.His1139Pro) single nucleotide variant Uncertain significance rs756628359 1:201028426-201028426 1:201059298-201059298

UniProtKB/Swiss-Prot genetic disease variations for Malignant Hyperthermia 5:

74
# Symbol AA change Variation ID SNP ID
1 CACNA1S p.Arg1086His VAR_001500 rs1800559

Expression for Malignant Hyperthermia 5

Search GEO for disease gene expression data for Malignant Hyperthermia 5.

Pathways for Malignant Hyperthermia 5

GO Terms for Malignant Hyperthermia 5

Sources for Malignant Hyperthermia 5

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