MHS5
MCID: MLG151
MIFTS: 27

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

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

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.

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

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 Type 5 29 CACNA1S

Anatomical Context for Malignant Hyperthermia 5

MalaCards organs/tissues related to Malignant Hyperthermia 5:

40
Heart, Testes, Skeletal Muscle, Bone

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 208) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1S NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)SNV Pathogenic 17625 rs80338777 1:201047043-201047043 1:201077915-201077915
2 CACNA1S NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)SNV Pathogenic 17623 rs28930068 1:201022666-201022666 1:201053538-201053538
3 CACNA1S NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)SNV Pathogenic 17624 rs28930069 1:201022667-201022667 1:201053539-201053539
4 CACNA1S NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter)SNV Pathogenic 473964 rs762294904 1:201047123-201047123 1:201077995-201077995
5 CACNA1S NM_000069.3(CACNA1S):c.564del (p.Ile189fs)deletion Pathogenic 541039 rs1553252746 1:201060898-201060898 1:201091770-201091770
6 CACNA1S NM_000069.3(CACNA1S):c.1796del (p.Asn599fs)deletion Pathogenic 567517 rs1558071742 1:201046079-201046079 1:201076951-201076951
7 CACNA1S NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs)deletion Pathogenic 665842 1:201012583-201012586 1:201043455-201043458
8 CACNA1S NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)SNV Pathogenic 641633 1:201020200-201020200 1:201051072-201051072
9 CACNA1S NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)SNV Pathogenic 643605 1:201031155-201031155 1:201062027-201062027
10 CACNA1S NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)deletion Pathogenic 656431 1:201035007-201035007 1:201065879-201065879
11 CACNA1S NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)SNV Pathogenic 665684 1:201044724-201044724 1:201075596-201075596
12 CACNA1S NM_000069.3(CACNA1S):c.732del (p.Cys245fs)deletion Pathogenic 646905 1:201058554-201058554 1:201089426-201089426
13 CACNA1S NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)SNV Pathogenic 649853 1:201058389-201058389 1:201089261-201089261
14 CACNA1S NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)SNV Pathogenic/Likely pathogenic 504167 rs201998231 1:201061139-201061139 1:201092011-201092011
15 CACNA1S NM_000069.3(CACNA1S):c.4113+1G>CSNV Likely pathogenic 567328 rs1558056376 1:201020111-201020111 1:201050983-201050983
16 CACNA1S NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)SNV risk factor 17626 rs1800559 1:201029943-201029943 1:201060815-201060815
17 CACNA1S NM_000069.3(CACNA1S):c.4798-2A>GSNV Likely pathogenic 639552 1:201012661-201012661 1:201043533-201043533
18 CACNA1S NM_000069.3(CACNA1S):c.3525+1G>ASNV Likely pathogenic 653789 1:201028316-201028316 1:201059188-201059188
19 CACNA1S NM_000069.3(CACNA1S):c.2854-2A>CSNV Likely pathogenic 653974 1:201031644-201031644 1:201062516-201062516
20 CACNA1S NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)SNV drug response 575733 rs772226819 1:201061121-201061121 1:201091993-201091993
21 CACNA1S NM_000069.3(CACNA1S):c.2490+5C>TSNV Conflicting interpretations of pathogenicity 646258 1:201038595-201038595 1:201069467-201069467
22 CACNA1S NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)SNV Conflicting interpretations of pathogenicity 17630 rs80338779 1:201035411-201035411 1:201066283-201066283
23 CACNA1S NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)SNV Conflicting interpretations of pathogenicity 279727 rs150590855 1:201047133-201047133 1:201078005-201078005
24 CACNA1S NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)SNV Conflicting interpretations of pathogenicity 199686 rs141204958 1:201061111-201061111 1:201091983-201091983
25 CACNA1S NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)SNV Conflicting interpretations of pathogenicity 294710 rs200848930 1:201012575-201012575 1:201043447-201043447
26 CACNA1S NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly)SNV Conflicting interpretations of pathogenicity 294720 rs79011683 1:201017805-201017805 1:201048677-201048677
27 CACNA1S NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)SNV Conflicting interpretations of pathogenicity 294774 rs200665694 1:201058543-201058543 1:201089415-201089415
28 CACNA1S NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)SNV Conflicting interpretations of pathogenicity 294777 rs527702358 1:201060864-201060864 1:201091736-201091736
29 CACNA1S NM_000069.3(CACNA1S):c.3414+3A>TSNV Conflicting interpretations of pathogenicity 381082 rs892742196 1:201029783-201029783 1:201060655-201060655
30 CACNA1S NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)SNV Conflicting interpretations of pathogenicity 446960 rs142102094 1:201029913-201029913 1:201060785-201060785
31 CACNA1S NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)SNV Conflicting interpretations of pathogenicity 402469 rs550371466 1:201010662-201010662 1:201041534-201041534
32 CACNA1S NM_000069.3(CACNA1S):c.398+3G>ASNV Conflicting interpretations of pathogenicity 294779 rs764710968 1:201063007-201063007 1:201093879-201093879
33 CACNA1S NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)SNV Conflicting interpretations of pathogenicity 585658 rs146696298 1:201052298-201052298 1:201083170-201083170
34 CACNA1S NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)SNV Conflicting interpretations of pathogenicity 507513 rs138245131 1:201061101-201061101 1:201091973-201091973
35 CACNA1S NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val)SNV Uncertain significance 541036 rs139920212 1:201058421-201058421 1:201089293-201089293
36 CACNA1S NM_000069.3(CACNA1S):c.5612C>T (p.Pro1871Leu)SNV Uncertain significance 541035 rs1553247246 1:201008969-201008969 1:201039841-201039841
37 CACNA1S NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr)indel Uncertain significance 541041 rs1553248123 1:201012484-201012485 1:201043356-201043357
38 CACNA1S NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)SNV Uncertain significance 541033 rs756066219 1:201012596-201012596 1:201043468-201043468
39 CACNA1S NM_000069.3(CACNA1S):c.4114-5T>ASNV Uncertain significance 541044 rs1421023094 1:201019649-201019649 1:201050521-201050521
40 CACNA1S NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=)SNV Uncertain significance 473994 rs769933784 1:201018227-201018227 1:201049099-201049099
41 CACNA1S NM_000069.3(CACNA1S):c.3111C>A (p.Asn1037Lys)SNV Uncertain significance 473983 rs143836984 1:201030539-201030539 1:201061411-201061411
42 CACNA1S NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met)SNV Uncertain significance 473970 rs764736462 1:201043716-201043716 1:201074588-201074588
43 CACNA1S NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His)SNV Uncertain significance 473967 rs762032797 1:201046094-201046094 1:201076966-201076966
44 CACNA1S NM_000069.3(CACNA1S):c.695-5T>ASNV Uncertain significance 474006 rs1487979476 1:201058596-201058596 1:201089468-201089468
45 CACNA1S NM_000069.3(CACNA1S):c.200C>T (p.Ala67Val)SNV Uncertain significance 473972 rs1553254116 1:201079350-201079350 1:201110222-201110222
46 CACNA1S NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe)SNV Uncertain significance 474008 rs556751671 1:201081375-201081375 1:201112247-201112247
47 CACNA1S NM_000069.3(CACNA1S):c.4778T>C (p.Met1593Thr)SNV Uncertain significance 579421 rs781500916 1:201013475-201013475 1:201044347-201044347
48 CACNA1S NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr)SNV Uncertain significance 566816 rs752620158 1:201016706-201016706 1:201047578-201047578
49 CACNA1S NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser)SNV Uncertain significance 581768 rs921262693 1:201022396-201022396 1:201053268-201053268
50 CACNA1S NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg)SNV Uncertain significance 573767 rs768780512 1:201022628-201022628 1:201053500-201053500

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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