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, Respiratory diseases

Aliases & Classifications for Malignant Hyperthermia 5

MalaCards integrated aliases for Malignant Hyperthermia 5:

Name: Malignant Hyperthermia 5 56 73
Malignant Hyperthermia, Susceptibility to, 5 56 29 6
Malignant Hyperthermia Susceptibility Type 5 74 71
Malignant Hyperthermia Susceptibility 5 56 13
Mhs5 56 73
Hyperthermia, Malignant, Susceptibility, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
malignant hyperthermia 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 601887
OMIM Phenotypic Series 56 PS145600
UMLS 71 C2930984

Summaries for Malignant Hyperthermia 5

OMIM : 56 Susceptibility to malignant hyperthermia-5 (MHS5) is a muscle disorder in which an episode is triggered by exposure to volatile anesthetic agents or depolarizing muscle relaxants. A fulminant malignant hyperthermia (MH) crisis is characterized by hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis (summary by Monnier et al., 1997). (601887)

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

UniProtKB/Swiss-Prot : 73 Malignant hyperthermia 5: Autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants.

Wikipedia : 74 Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular... more...

Related Diseases for Malignant Hyperthermia 5

Symptoms & Phenotypes for Malignant Hyperthermia 5

Human phenotypes related to Malignant Hyperthermia 5:

31
# Description HPO Frequency HPO Source Accession
1 fever 31 HP:0001945
2 tachycardia 31 HP:0001649
3 hypercapnia 31 HP:0012416

Symptoms via clinical synopsis from OMIM:

56
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 to, 5 29 CACNA1S

Anatomical Context for Malignant Hyperthermia 5

MalaCards organs/tissues related to Malignant Hyperthermia 5:

40
Skeletal Muscle, Heart, Testes

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. 56 6
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. 6
30499100 2019
3
Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 6
14870754 2004
4
Malignant Hyperthermia Susceptibility 6
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. 6
11260227 2001
6
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. 56
9175745 1997
7
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia. 61
28011884 2017
8
[Early recognition of malignant hyperthermia using capnometry]. 61
2106275 1990

Variations for Malignant Hyperthermia 5

ClinVar genetic disease variations for Malignant Hyperthermia 5:

6 (show top 50) (show all 399) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1S NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter)SNV Pathogenic 473964 rs762294904 1:201047123-201047123 1:201077995-201077995
2 CACNA1S NM_000069.3(CACNA1S):c.564del (p.Ile189fs)deletion Pathogenic 541039 rs1553252746 1:201060898-201060898 1:201091770-201091770
3 CACNA1S NM_000069.3(CACNA1S):c.1796del (p.Asn599fs)deletion Pathogenic 567517 rs1558071742 1:201046079-201046079 1:201076951-201076951
4 CACNA1S NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs)deletion Pathogenic 665842 1:201012583-201012586 1:201043455-201043458
5 CACNA1S NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)SNV Pathogenic 641633 1:201020200-201020200 1:201051072-201051072
6 CACNA1S NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)deletion Pathogenic 656431 1:201035007-201035007 1:201065879-201065879
7 CACNA1S NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)SNV Pathogenic 643605 1:201031155-201031155 1:201062027-201062027
8 CACNA1S NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)SNV Pathogenic 665684 1:201044724-201044724 1:201075596-201075596
9 CACNA1S NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)SNV Pathogenic 649853 1:201058389-201058389 1:201089261-201089261
10 CACNA1S NM_000069.3(CACNA1S):c.732del (p.Cys245fs)deletion Pathogenic 646905 1:201058554-201058554 1:201089426-201089426
11 CACNA1S NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs)deletion Pathogenic 848766 1:201012510-201012510 1:201043382-201043382
12 CACNA1S NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs)deletion Pathogenic 862482 1:201031099-201031100 1:201061971-201061972
13 CACNA1S NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter)SNV Pathogenic 856306 1:201022609-201022609 1:201053481-201053481
14 CACNA1S NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)SNV Pathogenic 17624 rs28930069 1:201022667-201022667 1:201053539-201053539
15 CACNA1S NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)SNV Pathogenic 17625 rs80338777 1:201047043-201047043 1:201077915-201077915
16 CACNA1S NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)SNV Pathogenic 17623 rs28930068 1:201022666-201022666 1:201053538-201053538
17 CACNA1S NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter)SNV Pathogenic 854887 1:201081449-201081449 1:201112321-201112321
18 CACNA1S NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)SNV Pathogenic/Likely pathogenic 504167 rs201998231 1:201061139-201061139 1:201092011-201092011
19 CACNA1S NM_000069.3(CACNA1S):c.4113+1G>CSNV Likely pathogenic 567328 rs1558056376 1:201020111-201020111 1:201050983-201050983
20 CACNA1S NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)SNV risk factor 17626 rs1800559 1:201029943-201029943 1:201060815-201060815
21 CACNA1S NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)SNV Likely pathogenic 849085 1:201047044-201047044 1:201077916-201077916
22 CACNA1S NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)SNV drug response 575733 rs772226819 1:201061121-201061121 1:201091993-201091993
23 CACNA1S NM_000069.3(CACNA1S):c.4798-2A>GSNV Likely pathogenic 639552 1:201012661-201012661 1:201043533-201043533
24 CACNA1S NM_000069.3(CACNA1S):c.3525+1G>ASNV Likely pathogenic 653789 1:201028316-201028316 1:201059188-201059188
25 CACNA1S NM_000069.3(CACNA1S):c.2854-2A>CSNV Likely pathogenic 653974 1:201031644-201031644 1:201062516-201062516
26 CACNA1S NM_000069.3(CACNA1S):c.2490+5C>TSNV Conflicting interpretations of pathogenicity 646258 1:201038595-201038595 1:201069467-201069467
27 CACNA1S NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His)SNV Conflicting interpretations of pathogenicity 643922 1:201047034-201047034 1:201077906-201077906
28 CACNA1S NM_000069.3(CACNA1S):c.744G>C (p.Thr248=)SNV Conflicting interpretations of pathogenicity 754960 1:201058542-201058542 1:201089414-201089414
29 CACNA1S NM_000069.3(CACNA1S):c.699C>T (p.Ile233=)SNV Conflicting interpretations of pathogenicity 699947 1:201058587-201058587 1:201089459-201089459
30 CACNA1S NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)SNV Conflicting interpretations of pathogenicity 17630 rs80338779 1:201035411-201035411 1:201066283-201066283
31 CACNA1S NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=)SNV Conflicting interpretations of pathogenicity 69079 rs150020550 1:201030461-201030461 1:201061333-201061333
32 CACNA1S NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)SNV Conflicting interpretations of pathogenicity 161208 rs145910245 1:201020165-201020165 1:201051037-201051037
33 CACNA1S NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)SNV Conflicting interpretations of pathogenicity 199686 rs141204958 1:201061111-201061111 1:201091983-201091983
34 CACNA1S NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)SNV Conflicting interpretations of pathogenicity 225282 rs116347156 1:201031133-201031133 1:201062005-201062005
35 CACNA1S NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)SNV Conflicting interpretations of pathogenicity 585658 rs146696298 1:201052298-201052298 1:201083170-201083170
36 CACNA1S NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)SNV Conflicting interpretations of pathogenicity 541073 rs183195890 1:201013535-201013535 1:201044407-201044407
37 CACNA1S NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)SNV Conflicting interpretations of pathogenicity 507513 rs138245131 1:201061101-201061101 1:201091973-201091973
38 CACNA1S NM_000069.3(CACNA1S):c.4114-3C>TSNV Conflicting interpretations of pathogenicity 514493 rs182873269 1:201019647-201019647 1:201050519-201050519
39 CACNA1S NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)SNV Conflicting interpretations of pathogenicity 541060 rs530655602 1:201022621-201022621 1:201053493-201053493
40 CACNA1S NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg)SNV Conflicting interpretations of pathogenicity 474007 rs370325121 1:201058388-201058388 1:201089260-201089260
41 CACNA1S NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)SNV Conflicting interpretations of pathogenicity 402469 rs550371466 1:201010662-201010662 1:201041534-201041534
42 CACNA1S NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)SNV Conflicting interpretations of pathogenicity 446960 rs142102094 1:201029913-201029913 1:201060785-201060785
43 CACNA1S NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)SNV Conflicting interpretations of pathogenicity 279727 rs150590855 1:201047133-201047133 1:201078005-201078005
44 CACNA1S NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)SNV Conflicting interpretations of pathogenicity 294708 rs146696748 1:201012449-201012449 1:201043321-201043321
45 CACNA1S NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)SNV Conflicting interpretations of pathogenicity 294710 rs200848930 1:201012575-201012575 1:201043447-201043447
46 CACNA1S NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His)SNV Conflicting interpretations of pathogenicity 294715 rs764330337 1:201016365-201016365 1:201047237-201047237
47 CACNA1S NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=)SNV Conflicting interpretations of pathogenicity 294737 rs138328785 1:201031619-201031619 1:201062491-201062491
48 CACNA1S NM_000069.3(CACNA1S):c.2754G>A (p.Val918=)SNV Conflicting interpretations of pathogenicity 294739 rs150708636 1:201035065-201035065 1:201065937-201065937
49 CACNA1S NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)SNV Conflicting interpretations of pathogenicity 294729 rs148870919 1:201023671-201023671 1:201054543-201054543
50 CACNA1S NM_000069.3(CACNA1S):c.1949-6G>ASNV Conflicting interpretations of pathogenicity 294749 rs373698107 1:201043754-201043754 1:201074626-201074626

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

73
# 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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