MHS5
MCID: MLG151
MIFTS: 27

Malignant Hyperthermia 5 (MHS5)

Categories: Bone diseases, Cancer 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 73
Malignant Hyperthermia, Susceptibility to, 5 57 29 6
Malignant Hyperthermia Susceptibility Type 5 74 71
Malignant Hyperthermia Susceptibility 5 57 13
Mhs5 57 73
Hyperthermia, Malignant, Susceptibility, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 601887
OMIM Phenotypic Series 57 PS145600
UMLS 71 C2930984

Summaries for Malignant Hyperthermia 5

OMIM® : 57 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) (Updated 05-Mar-2021)

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, 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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. 57 6
9199552 1997
2
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
3
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. 57
9175745 1997
4
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia. 61
28011884 2017
5
[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 473)
# 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.3716G>A (p.Arg1239His) SNV Pathogenic 17623 rs28930068 1:201022666-201022666 1:201053538-201053538
3 CACNA1S NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) SNV Pathogenic 17625 rs80338777 1:201047043-201047043 1:201077915-201077915
4 CACNA1S NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) Deletion Pathogenic 567517 rs1558071742 1:201046079-201046079 1:201076951-201076951
5 CACNA1S NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) SNV Pathogenic 17624 rs28930069 1:201022667-201022667 1:201053539-201053539
6 CACNA1S NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) SNV Pathogenic 504167 rs201998231 1:201061139-201061139 1:201092011-201092011
7 CACNA1S NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter) SNV Pathogenic 641633 rs563795648 1:201020200-201020200 1:201051072-201051072
8 CACNA1S NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter) SNV Pathogenic 643605 rs1572035834 1:201031155-201031155 1:201062027-201062027
9 CACNA1S NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter) SNV Pathogenic 649853 rs1572059904 1:201058389-201058389 1:201089261-201089261
10 CACNA1S NM_000069.3(CACNA1S):c.732del (p.Cys245fs) Deletion Pathogenic 646905 rs1558079311 1:201058554-201058554 1:201089426-201089426
11 CACNA1S NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) Deletion Pathogenic 656431 rs1572038993 1:201035007-201035007 1:201065879-201065879
12 CACNA1S NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) SNV Pathogenic 402469 rs550371466 1:201010662-201010662 1:201041534-201041534
13 CACNA1S NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) SNV Pathogenic 17630 rs80338779 1:201035411-201035411 1:201066283-201066283
14 CACNA1S NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) SNV Pathogenic 665684 rs1572048220 1:201044724-201044724 1:201075596-201075596
15 CACNA1S NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs) Deletion Pathogenic 665842 rs1572019465 1:201012583-201012586 1:201043455-201043458
16 CACNA1S NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) Deletion Pathogenic 848766 1:201012510-201012510 1:201043382-201043382
17 CACNA1S NM_000069.3(CACNA1S):c.564del (p.Ile189fs) Deletion Pathogenic 541039 rs1553252746 1:201060898-201060898 1:201091770-201091770
18 CACNA1S NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter) SNV Pathogenic 854887 1:201081449-201081449 1:201112321-201112321
19 CACNA1S NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter) SNV Pathogenic 856306 1:201022609-201022609 1:201053481-201053481
20 CACNA1S NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs) Deletion Pathogenic 862482 1:201031099-201031100 1:201061971-201061972
21 CACNA1S NM_000069.3(CACNA1S):c.3414+3A>T SNV Pathogenic 381082 rs892742196 1:201029783-201029783 1:201060655-201060655
22 CACNA1S NM_000069.3(CACNA1S):c.4798-2A>G SNV Likely pathogenic 639552 rs1428157373 1:201012661-201012661 1:201043533-201043533
23 CACNA1S NM_000069.3(CACNA1S):c.5049-2A>G SNV Likely pathogenic 541072 rs148989517 1:201010719-201010719 1:201041591-201041591
24 CACNA1S NM_000069.3(CACNA1S):c.1948+1G>A SNV Likely pathogenic 402472 rs745712829 1:201044622-201044622 1:201075494-201075494
25 CACNA1S NM_000069.3(CACNA1S):c.5227-2del Deletion Likely pathogenic 966202 1:201009504-201009504 1:201040376-201040376
26 CACNA1S NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) SNV Likely pathogenic 849085 1:201047044-201047044 1:201077916-201077916
27 CACNA1S NM_000069.3(CACNA1S):c.3525+1G>A SNV Likely pathogenic 653789 rs1572033599 1:201028316-201028316 1:201059188-201059188
28 CACNA1S NM_000069.3(CACNA1S):c.2854-2A>C SNV Likely pathogenic 653974 rs1572036396 1:201031644-201031644 1:201062516-201062516
29 CACNA1S NM_000069.3(CACNA1S):c.4113+1G>C SNV Likely pathogenic 567328 rs1558056376 1:201020111-201020111 1:201050983-201050983
30 CACNA1S NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) SNV risk factor 17626 rs1800559 1:201029943-201029943 1:201060815-201060815
31 CACNA1S NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) SNV Uncertain significance 374942 rs756628359 1:201028426-201028426 1:201059298-201059298
32 CACNA1S NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) SNV Uncertain significance 279727 rs150590855 1:201047133-201047133 1:201078005-201078005
33 CACNA1S NM_000069.3(CACNA1S):c.4962C>G (p.Asn1654Lys) SNV Uncertain significance 374943 rs370339547 1:201012495-201012495 1:201043367-201043367
34 CACNA1S NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) SNV Uncertain significance 294720 rs79011683 1:201017805-201017805 1:201048677-201048677
35 CACNA1S NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu) SNV Uncertain significance 374944 rs571114435 1:201061115-201061115 1:201091987-201091987
36 CACNA1S NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln) SNV Uncertain significance 473995 rs752196801 1:201018160-201018160 1:201049032-201049032
37 CACNA1S NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) SNV Uncertain significance 420411 rs767571919 1:201060843-201060843 1:201091715-201091715
38 CACNA1S NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) SNV Uncertain significance 473963 rs763360081 1:201054623-201054623 1:201085495-201085495
39 CACNA1S NM_000069.3(CACNA1S):c.4795C>T (p.Arg1599Trp) SNV Uncertain significance 473998 rs763695518 1:201013458-201013458 1:201044330-201044330
40 CACNA1S NM_000069.3(CACNA1S):c.2103G>A (p.Met701Ile) SNV Uncertain significance 473973 rs1553251197 1:201042731-201042731 1:201073603-201073603
41 CACNA1S NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) SNV Uncertain significance 473968 rs149195094 1:201044719-201044719 1:201075591-201075591
42 CACNA1S NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) SNV Uncertain significance 387090 rs757840865 1:201031205-201031205 1:201062077-201062077
43 CACNA1S NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) SNV Uncertain significance 474005 rs141556780 1:201009031-201009031 1:201039903-201039903
44 CACNA1S NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) SNV Uncertain significance 473967 rs762032797 1:201046094-201046094 1:201076966-201076966
45 CACNA1S NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) SNV Uncertain significance 473993 rs1553252778 1:201061237-201061237 1:201092109-201092109
46 CACNA1S NM_000069.3(CACNA1S):c.3111C>A (p.Asn1037Lys) SNV Uncertain significance 473983 rs143836984 1:201030539-201030539 1:201061411-201061411
47 CACNA1S NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) SNV Uncertain significance 21035 rs80338782 1:201029944-201029944 1:201060816-201060816
48 CACNA1S NM_000069.3(CACNA1S):c.695-5T>A SNV Uncertain significance 474006 rs1487979476 1:201058596-201058596 1:201089468-201089468
49 CACNA1S NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) SNV Uncertain significance 473980 rs571902899 1:201035052-201035052 1:201065924-201065924
50 CACNA1S NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) SNV Uncertain significance 474007 rs370325121 1:201058388-201058388 1:201089260-201089260

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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32 ICD10
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56 OMIM via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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