MCID: MLG148
MIFTS: 21

Malignant Hyperthermia 2

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

Aliases & Classifications for Malignant Hyperthermia 2

MalaCards integrated aliases for Malignant Hyperthermia 2:

Name: Malignant Hyperthermia 2 57
Malignant Hyperthermia Susceptibility Type 2 76 53 29 73
Malignant Hyperthermia Susceptibility 2 57 13
Mhs2 57 53
Malignant Hyperthermia, Susceptibility to, 2 57
Malignant Hyperpyrexia Susceptibility Type 2 53

Characteristics:

OMIM:

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


HPO:

32
malignant hyperthermia 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Malignant Hyperthermia 2

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

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

Description from OMIM: 154275

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

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 11.5
2 malignant hyperthermia susceptibility 11.4

Symptoms & Phenotypes for Malignant Hyperthermia 2

Symptoms via clinical synopsis from OMIM:

57
Neuro:
hyperthermia

Metabolic:
lactic acidosis

Lab:
elevated blood cpk, phosphate and potassium

Muscle:
myopathy
rhabdomyolysis may follow severe exercise in hot conditions, neuroleptic drugs, alcohol, or infections

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


Clinical features from OMIM:

154275

Human phenotypes related to Malignant Hyperthermia 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 fever 32 HP:0001945
2 malignant hyperthermia 32 HP:0002047
3 hyperkalemia 32 HP:0002153
4 hyperphosphatemia 32 HP:0002905
5 lactic acidosis 32 HP:0003128
6 myopathy 32 HP:0003198
7 elevated serum creatine phosphokinase 32 HP:0003236
8 viral infection-induced rhabdomyolysis 32 HP:0003558
9 exercise-induced rhabdomyolysis 32 HP:0009045
10 anesthetic-induced rhabdomylosis 32 HP:0011439
11 alcohol-induced rhabdomyolysis 32 HP:0011440

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 Type 2 29

Anatomical Context for Malignant Hyperthermia 2

MalaCards organs/tissues related to Malignant Hyperthermia 2:

41
Heart

Publications for Malignant Hyperthermia 2

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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