MHS3
MCID: MLG149
MIFTS: 20

Malignant Hyperthermia 3 (MHS3)

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

Aliases & Classifications for Malignant Hyperthermia 3

MalaCards integrated aliases for Malignant Hyperthermia 3:

Name: Malignant Hyperthermia 3 57
Malignant Hyperthermia, Susceptibility to, 3 57 29
Malignant Hyperthermia Susceptibility Type 3 73 70
Malignant Hyperthermia Susceptibility 3 57 13
Mhs3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
heterogeneous
autosomal dominant form (unlinked to 19q or 17q)


HPO:

31
malignant hyperthermia 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 154276
OMIM Phenotypic Series 57 PS145600
MedGen 41 C2930982
UMLS 70 C2930982

Summaries for Malignant Hyperthermia 3

MalaCards based summary : Malignant Hyperthermia 3, also known as malignant hyperthermia, susceptibility to, 3, is related to malignant hyperthermia and malignant hyperthermia susceptibility. An important gene associated with Malignant Hyperthermia 3 is MHS3 (Malignant Hyperthermia Susceptibility 3). Related phenotypes are hypertonia and myopathy

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

More information from OMIM: 154276 PS145600

Related Diseases for Malignant Hyperthermia 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 10.9
2 malignant hyperthermia susceptibility 10.9

Symptoms & Phenotypes for Malignant Hyperthermia 3

Human phenotypes related to Malignant Hyperthermia 3:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertonia 31 HP:0001276
2 myopathy 31 HP:0003198
3 fever 31 HP:0001945
4 elevated serum creatine kinase 31 HP:0003236
5 malignant hyperthermia 31 HP:0002047
6 hyperkalemia 31 HP:0002153
7 lactic acidosis 31 HP:0003128
8 hyperphosphatemia 31 HP:0002905
9 exercise-induced rhabdomyolysis 31 HP:0009045
10 viral infection-induced rhabdomyolysis 31 HP:0003558
11 anesthetic-induced rhabdomylosis 31 HP:0011439
12 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®:

154276 (Updated 05-Apr-2021)

Drugs & Therapeutics for Malignant Hyperthermia 3

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 3

Genetic Tests for Malignant Hyperthermia 3

Genetic tests related to Malignant Hyperthermia 3:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia, Susceptibility to, 3 29

Anatomical Context for Malignant Hyperthermia 3

Publications for Malignant Hyperthermia 3

Articles related to Malignant Hyperthermia 3:

# Title Authors PMID Year
1
Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). 61 57
10534405 1999
2
Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. 57
7951247 1994
3
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

Variations for Malignant Hyperthermia 3

Expression for Malignant Hyperthermia 3

Search GEO for disease gene expression data for Malignant Hyperthermia 3.

Pathways for Malignant Hyperthermia 3

GO Terms for Malignant Hyperthermia 3

Sources for Malignant Hyperthermia 3

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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