MHS4
MCID: MLG150
MIFTS: 19

Malignant Hyperthermia 4 (MHS4)

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

Aliases & Classifications for Malignant Hyperthermia 4

MalaCards integrated aliases for Malignant Hyperthermia 4:

Name: Malignant Hyperthermia 4 57
Malignant Hyperthermia, Susceptibility to, 4 57 29
Malignant Hyperthermia Susceptibility Type 4 73 70
Malignant Hyperthermia Susceptibility 4 57 13
Mhs4 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant (3q13.1)


HPO:

31
malignant hyperthermia 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 600467
OMIM Phenotypic Series 57 PS145600
MedGen 41 C1838102
UMLS 70 C2930983

Summaries for Malignant Hyperthermia 4

MalaCards based summary : Malignant Hyperthermia 4, also known as malignant hyperthermia, susceptibility to, 4, is related to malignant hyperthermia susceptibility and neuroleptic malignant syndrome. An important gene associated with Malignant Hyperthermia 4 is MHS4 (Malignant Hyperthermia Susceptibility 4). Related phenotypes are malignant hyperthermia and acidosis

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

More information from OMIM: 600467 PS145600

Related Diseases for Malignant Hyperthermia 4

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

# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia susceptibility 11.1
2 neuroleptic malignant syndrome 9.9
3 malignant hyperthermia 9.9

Symptoms & Phenotypes for Malignant Hyperthermia 4

Human phenotypes related to Malignant Hyperthermia 4:

31
# Description HPO Frequency HPO Source Accession
1 malignant hyperthermia 31 HP:0002047
2 acidosis 31 HP:0001941
3 rhabdomyolysis 31 HP:0003201

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Metabolic:
malignant hyperthermia
acidosis
hypoxia

Misc:
triggered by certain anesthetics, such as halothane or succinylcholine
rapid body temperature rise

Muscle:
rhabdomyolysis
masseter or generalized muscle contracture

Clinical features from OMIM®:

600467 (Updated 05-Apr-2021)

Drugs & Therapeutics for Malignant Hyperthermia 4

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 4

Genetic Tests for Malignant Hyperthermia 4

Genetic tests related to Malignant Hyperthermia 4:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia, Susceptibility to, 4 29

Anatomical Context for Malignant Hyperthermia 4

Publications for Malignant Hyperthermia 4

Articles related to Malignant Hyperthermia 4:

# Title Authors PMID Year
1
Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. 57
7887423 1995
2
[Neuroleptic malignant syndrome (dopamine-dependent malignant hyperthermia). 4 different cases]. 61
2896306 1988
3
[Malignant hyperthermia. Present implications in forensic medicine (author's transl)]. 61
7377530 1980

Variations for Malignant Hyperthermia 4

Expression for Malignant Hyperthermia 4

Search GEO for disease gene expression data for Malignant Hyperthermia 4.

Pathways for Malignant Hyperthermia 4

GO Terms for Malignant Hyperthermia 4

Sources for Malignant Hyperthermia 4

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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