MCID: MLG151
MIFTS: 19

Malignant Hyperthermia 5

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Malignant Hyperthermia 5

MalaCards integrated aliases for Malignant Hyperthermia 5:

Name: Malignant Hyperthermia 5 57 75
Malignant Hyperthermia Susceptibility Type 5 76 53 29 6 73
Mhs5 57 53 75
Malignant Hyperthermia Susceptibility 5 57 13
Malignant Hyperthermia, Susceptibility to, 5 57
Malignant Hyperpyrexia Susceptibility Type 5 53
Hyperthermia, Malignant, Susceptibility to 5 40

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:

OMIM 57 601887
SNOMED-CT via HPO 69 263681008 386661006 50177009
UMLS 73 C2930984

Summaries for Malignant Hyperthermia 5

UniProtKB/Swiss-Prot : 75 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 and testes, and related phenotype is fever.

Wikipedia : 76 Malignant hyperthermia (MH) is a type of severe reaction that occurs to particular medications used... more...

Description from OMIM: 601887

Related Diseases for Malignant Hyperthermia 5

Symptoms & Phenotypes for Malignant Hyperthermia 5

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
tachycardia during anesthesia
hypercapnia during anesthesia
extrasystoles during anesthesia

Neurologic Central Nervous System:
hyperthermia

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


Clinical features from OMIM:

601887

Human phenotypes related to Malignant Hyperthermia 5:

32
# Description HPO Frequency HPO Source Accession
1 fever 32 HP:0001945

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:

41
Heart, Testes

Publications for Malignant Hyperthermia 5

Variations for Malignant Hyperthermia 5

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

75
# Symbol AA change Variation ID SNP ID
1 CACNA1S p.Arg1086His VAR_001500 rs1800559

ClinVar genetic disease variations for Malignant Hyperthermia 5:

6
(show top 50) (show all 354)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1S NM_000069.2(CACNA1S): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs80338777 GRCh37 Chromosome 1, 201047043: 201047043
2 CACNA1S NM_000069.2(CACNA1S): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs80338777 GRCh38 Chromosome 1, 201077915: 201077915
3 CACNA1S NM_000069.2(CACNA1S): c.3257G> A (p.Arg1086His) single nucleotide variant risk factor rs1800559 GRCh37 Chromosome 1, 201029943: 201029943
4 CACNA1S NM_000069.2(CACNA1S): c.3257G> A (p.Arg1086His) single nucleotide variant risk factor rs1800559 GRCh38 Chromosome 1, 201060815: 201060815
5 CACNA1S NM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His) single nucleotide variant Pathogenic rs28930068 GRCh37 Chromosome 1, 201022666: 201022666
6 CACNA1S NM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His) single nucleotide variant Pathogenic rs28930068 GRCh38 Chromosome 1, 201053538: 201053538
7 CACNA1S NM_000069.2(CACNA1S): c.4060A> T (p.Thr1354Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145910245 GRCh37 Chromosome 1, 201020165: 201020165
8 CACNA1S NM_000069.2(CACNA1S): c.4060A> T (p.Thr1354Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145910245 GRCh38 Chromosome 1, 201051037: 201051037
9 CACNA1S NM_000069.2(CACNA1S): c.2047C> T (p.Arg683Cys) single nucleotide variant Benign/Likely benign rs35708442 GRCh37 Chromosome 1, 201043650: 201043650
10 CACNA1S NM_000069.2(CACNA1S): c.2047C> T (p.Arg683Cys) single nucleotide variant Benign/Likely benign rs35708442 GRCh38 Chromosome 1, 201074522: 201074522
11 CACNA1S NM_000069.2(CACNA1S): c.530C> T (p.Ser177Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141204958 GRCh37 Chromosome 1, 201061111: 201061111
12 CACNA1S NM_000069.2(CACNA1S): c.530C> T (p.Ser177Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141204958 GRCh38 Chromosome 1, 201091983: 201091983
13 CACNA1S NM_000069.2(CACNA1S): c.2992G> A (p.Asp998Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116347156 GRCh37 Chromosome 1, 201031133: 201031133
14 CACNA1S NM_000069.2(CACNA1S): c.2992G> A (p.Asp998Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116347156 GRCh38 Chromosome 1, 201062005: 201062005
15 CACNA1S NM_000069.2(CACNA1S): c.1547C> T (p.Ser516Leu) single nucleotide variant Benign/Likely benign rs140662085 GRCh37 Chromosome 1, 201047079: 201047079
16 CACNA1S NM_000069.2(CACNA1S): c.1547C> T (p.Ser516Leu) single nucleotide variant Benign/Likely benign rs140662085 GRCh38 Chromosome 1, 201077951: 201077951
17 CACNA1S NM_000069.2(CACNA1S): c.5570G> A (p.Ser1857Asn) single nucleotide variant Likely benign rs72749169 GRCh37 Chromosome 1, 201009011: 201009011
18 CACNA1S NM_000069.2(CACNA1S): c.5570G> A (p.Ser1857Asn) single nucleotide variant Likely benign rs72749169 GRCh38 Chromosome 1, 201039883: 201039883
19 CACNA1S NM_000069.2(CACNA1S): c.5490_5497delAGAGCTAC (p.Leu1832Argfs) deletion Benign rs554596425 GRCh38 Chromosome 1, 201039956: 201039963
20 CACNA1S NM_000069.2(CACNA1S): c.5490_5497delAGAGCTAC (p.Leu1832Argfs) deletion Benign rs554596425 GRCh37 Chromosome 1, 201009084: 201009091
21 CACNA1S NM_000069.2(CACNA1S): c.5134+8C> T single nucleotide variant Benign rs114243233 GRCh38 Chromosome 1, 201041496: 201041496
22 CACNA1S NM_000069.2(CACNA1S): c.5134+8C> T single nucleotide variant Benign rs114243233 GRCh37 Chromosome 1, 201010624: 201010624
23 CACNA1S NM_000069.2(CACNA1S): c.4686T> C (p.Ile1562=) single nucleotide variant Benign/Likely benign rs138423302 GRCh38 Chromosome 1, 201044439: 201044439
24 CACNA1S NM_000069.2(CACNA1S): c.4686T> C (p.Ile1562=) single nucleotide variant Benign/Likely benign rs138423302 GRCh37 Chromosome 1, 201013567: 201013567
25 CACNA1S NM_000069.2(CACNA1S): c.3953+7G> A single nucleotide variant Benign/Likely benign rs141071505 GRCh37 Chromosome 1, 201021678: 201021678
26 CACNA1S NM_000069.2(CACNA1S): c.3953+7G> A single nucleotide variant Benign/Likely benign rs141071505 GRCh38 Chromosome 1, 201052550: 201052550
27 CACNA1S NM_000069.2(CACNA1S): c.3953+6C> T single nucleotide variant Benign/Likely benign rs115707724 GRCh38 Chromosome 1, 201052551: 201052551
28 CACNA1S NM_000069.2(CACNA1S): c.3953+6C> T single nucleotide variant Benign/Likely benign rs115707724 GRCh37 Chromosome 1, 201021679: 201021679
29 CACNA1S NM_000069.2(CACNA1S): c.3822C> T (p.Ile1274=) single nucleotide variant Benign rs56183942 GRCh38 Chromosome 1, 201053248: 201053248
30 CACNA1S NM_000069.2(CACNA1S): c.3822C> T (p.Ile1274=) single nucleotide variant Benign rs56183942 GRCh37 Chromosome 1, 201022376: 201022376
31 CACNA1S NM_000069.2(CACNA1S): c.3811G> A (p.Ala1271Thr) single nucleotide variant Benign/Likely benign rs138144724 GRCh38 Chromosome 1, 201053259: 201053259
32 CACNA1S NM_000069.2(CACNA1S): c.3811G> A (p.Ala1271Thr) single nucleotide variant Benign/Likely benign rs138144724 GRCh37 Chromosome 1, 201022387: 201022387
33 CACNA1S NM_000069.2(CACNA1S): c.3796-9G> A single nucleotide variant Benign/Likely benign rs142184434 GRCh38 Chromosome 1, 201053283: 201053283
34 CACNA1S NM_000069.2(CACNA1S): c.3796-9G> A single nucleotide variant Benign/Likely benign rs142184434 GRCh37 Chromosome 1, 201022411: 201022411
35 CACNA1S NM_000069.2(CACNA1S): c.3795+3G> A single nucleotide variant Benign/Likely benign rs191758096 GRCh38 Chromosome 1, 201053456: 201053456
36 CACNA1S NM_000069.2(CACNA1S): c.3795+3G> A single nucleotide variant Benign/Likely benign rs191758096 GRCh37 Chromosome 1, 201022584: 201022584
37 CACNA1S NM_000069.2(CACNA1S): c.3261A> G (p.Gln1087=) single nucleotide variant Benign/Likely benign rs34515088 GRCh37 Chromosome 1, 201029939: 201029939
38 CACNA1S NM_000069.2(CACNA1S): c.3261A> G (p.Gln1087=) single nucleotide variant Benign/Likely benign rs34515088 GRCh38 Chromosome 1, 201060811: 201060811
39 CACNA1S NM_000069.2(CACNA1S): c.2748C> T (p.His916=) single nucleotide variant Benign rs2297902 GRCh38 Chromosome 1, 201065943: 201065943
40 CACNA1S NM_000069.2(CACNA1S): c.2748C> T (p.His916=) single nucleotide variant Benign rs2297902 GRCh37 Chromosome 1, 201035071: 201035071
41 CACNA1S NM_000069.2(CACNA1S): c.2673C> T (p.Ser891=) single nucleotide variant Benign rs16847623 GRCh37 Chromosome 1, 201035429: 201035429
42 CACNA1S NM_000069.2(CACNA1S): c.2673C> T (p.Ser891=) single nucleotide variant Benign rs16847623 GRCh38 Chromosome 1, 201066301: 201066301
43 CACNA1S NM_000069.2(CACNA1S): c.2480T> C (p.Met827Thr) single nucleotide variant Benign/Likely benign rs61238538 GRCh37 Chromosome 1, 201038610: 201038610
44 CACNA1S NM_000069.2(CACNA1S): c.2480T> C (p.Met827Thr) single nucleotide variant Benign/Likely benign rs61238538 GRCh38 Chromosome 1, 201069482: 201069482
45 CACNA1S NM_000069.2(CACNA1S): c.2454G> A (p.Ala818=) single nucleotide variant Benign/Likely benign rs141619541 GRCh38 Chromosome 1, 201069508: 201069508
46 CACNA1S NM_000069.2(CACNA1S): c.2454G> A (p.Ala818=) single nucleotide variant Benign/Likely benign rs141619541 GRCh37 Chromosome 1, 201038636: 201038636
47 CACNA1S NM_000069.2(CACNA1S): c.2063+7G> T single nucleotide variant Benign/Likely benign rs79984703 GRCh37 Chromosome 1, 201043627: 201043627
48 CACNA1S NM_000069.2(CACNA1S): c.2063+7G> T single nucleotide variant Benign/Likely benign rs79984703 GRCh38 Chromosome 1, 201074499: 201074499
49 CACNA1S NM_000069.2(CACNA1S): c.1995C> T (p.Ala665=) single nucleotide variant Benign/Likely benign rs16847664 GRCh37 Chromosome 1, 201043702: 201043702
50 CACNA1S NM_000069.2(CACNA1S): c.1995C> T (p.Ala665=) single nucleotide variant Benign/Likely benign rs16847664 GRCh38 Chromosome 1, 201074574: 201074574

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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