MHS2
MCID: MLG148
MIFTS: 23

Malignant Hyperthermia 2 (MHS2)

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

Aliases & Classifications for Malignant Hyperthermia 2

MalaCards integrated aliases for Malignant Hyperthermia 2:

Name: Malignant Hyperthermia 2 57
Malignant Hyperthermia, Susceptibility to, 2 57 29
Malignant Hyperthermia Susceptibility Type 2 73 70
Malignant Hyperthermia Susceptibility 2 57 13
Mhs2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
heterogeneous
autosomal dominant form (unlinked to 19q13.1-q13.2)


HPO:

31
malignant hyperthermia 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 154275
OMIM Phenotypic Series 57 PS145600
MedGen 41 C2930981
UMLS 70 C2930981

Summaries for Malignant Hyperthermia 2

MalaCards based summary : Malignant Hyperthermia 2, also known as malignant hyperthermia, susceptibility to, 2, is related to malignant hyperthermia susceptibility and malignant hyperthermia. An important gene associated with Malignant Hyperthermia 2 is MHS2 (Malignant Hyperthermia Susceptibility 2). Affiliated tissues include skeletal muscle, and related phenotypes are myopathy and fever

Wikipedia : 73 Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular... more...

More information from OMIM: 154275 PS145600

Related Diseases for Malignant Hyperthermia 2

Diseases in the Malignant Hyperthermia family:

Malignant Hyperthermia 1 Malignant Hyperthermia 2
Malignant Hyperthermia 3 Malignant Hyperthermia 4
Malignant Hyperthermia 5 Malignant Hyperthermia 6
Rare Disease with Malignant Hyperthermia

Diseases related to Malignant Hyperthermia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia susceptibility 11.1
2 malignant hyperthermia 10.1
3 myopathy 10.0
4 muscular dystrophy 10.0
5 malignant hyperthermia 3 9.9
6 hyperkalemic periodic paralysis 9.9

Graphical network of the top 20 diseases related to Malignant Hyperthermia 2:



Diseases related to Malignant Hyperthermia 2

Symptoms & Phenotypes for Malignant Hyperthermia 2

Human phenotypes related to Malignant Hyperthermia 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 myopathy 31 HP:0003198
2 fever 31 HP:0001945
3 elevated serum creatine kinase 31 HP:0003236
4 malignant hyperthermia 31 HP:0002047
5 hyperkalemia 31 HP:0002153
6 lactic acidosis 31 HP:0003128
7 hyperphosphatemia 31 HP:0002905
8 exercise-induced rhabdomyolysis 31 HP:0009045
9 viral infection-induced rhabdomyolysis 31 HP:0003558
10 anesthetic-induced rhabdomylosis 31 HP:0011439
11 alcohol-induced rhabdomyolysis 31 HP:0011440

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle:
myopathy
rhabdomyolysis may follow severe exercise in hot conditions, neuroleptic drugs, alcohol, or infections

Neuro:
hyperthermia

Lab:
elevated blood cpk, phosphate and potassium

Metabolic:
lactic acidosis

Misc:
precipitated by general anesthesia
hypertonicity of voluntary muscles
response to dantrolene sodium

Clinical features from OMIM®:

154275 (Updated 05-Apr-2021)

Drugs & Therapeutics for Malignant Hyperthermia 2

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 2

Genetic Tests for Malignant Hyperthermia 2

Genetic tests related to Malignant Hyperthermia 2:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia, Susceptibility to, 2 29

Anatomical Context for Malignant Hyperthermia 2

MalaCards organs/tissues related to Malignant Hyperthermia 2:

40
Skeletal Muscle

Publications for Malignant Hyperthermia 2

Articles related to Malignant Hyperthermia 2:

(show all 11)
# Title Authors PMID Year
1
Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. 57
9508059 1998
2
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. 57
8395939 1993
3
Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility. 57
1330893 1992
4
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. 57
1427885 1992
5
Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. 57
1774061 1991
6
Circumcision in children beyond the neonatal period. 61
8233738 1993
7
[Malignant hyperthermia: 2 years of clinical experience at the center for the study of malignant hyperthermia of Naples]. 61
1798581 1991
8
[Malignant hyperthermia: 2 cases in a family]. 61
3244437 1988
9
Preparing anesthesia equipment for suspected malignant hyperthermia episodes. 61
10258775 1982
10
[Electrophysiologic investigations in a family with malignant hyperthermia (author's transl)]. 61
6902689 1980
11
[Malignant hyperthermia. 2 unusual courses]. 61
7450881 1980

Variations for Malignant Hyperthermia 2

Expression for Malignant Hyperthermia 2

Search GEO for disease gene expression data for Malignant Hyperthermia 2.

Pathways for Malignant Hyperthermia 2

GO Terms for Malignant Hyperthermia 2

Sources for Malignant Hyperthermia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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