MHS6
MCID: MLG152
MIFTS: 18

Malignant Hyperthermia 6 (MHS6)

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

Aliases & Classifications for Malignant Hyperthermia 6

MalaCards integrated aliases for Malignant Hyperthermia 6:

Name: Malignant Hyperthermia 6 57
Malignant Hyperthermia, Susceptibility to, 6 57 29
Malignant Hyperthermia Susceptibility Type 6 73 70
Malignant Hyperthermia Susceptibility 6 57 13
Mhs6 57

Classifications:



External Ids:

OMIM® 57 601888
OMIM Phenotypic Series 57 PS145600
MedGen 41 C1866076
UMLS 70 C2930985

Summaries for Malignant Hyperthermia 6

MalaCards based summary : Malignant Hyperthermia 6, also known as malignant hyperthermia, susceptibility to, 6, is related to malignant hyperthermia and malignant hyperthermia susceptibility. An important gene associated with Malignant Hyperthermia 6 is MHS6 (Malignant Hyperthermia Susceptibility 6). Affiliated tissues include colon and pituitary.

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

More information from OMIM: 601888 PS145600

Related Diseases for Malignant Hyperthermia 6

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

# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 11.1
2 malignant hyperthermia susceptibility 10.9

Symptoms & Phenotypes for Malignant Hyperthermia 6

Clinical features from OMIM®:

601888 (Updated 05-Apr-2021)

Drugs & Therapeutics for Malignant Hyperthermia 6

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia 6

Genetic Tests for Malignant Hyperthermia 6

Genetic tests related to Malignant Hyperthermia 6:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia, Susceptibility to, 6 29

Anatomical Context for Malignant Hyperthermia 6

MalaCards organs/tissues related to Malignant Hyperthermia 6:

40
Colon, Pituitary

Publications for Malignant Hyperthermia 6

Articles related to Malignant Hyperthermia 6:

(show all 12)
# Title Authors PMID Year
1
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. 57
9175745 1997
2
Rapid disease progression in patient with mismatch-repair deficiency pituitary ACTH-secreting adenoma treated with checkpoint inhibitor pembrolizumab. 61
31702999 2020
3
DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 61
28640387 2017
4
Mismatch repair gene expression in gastroesophageal cancers. 61
26215063 2015
5
The immunohistochemistry signature of mismatch repair (MMR) proteins in a multiethnic Asian cohort with endometrial carcinoma. 61
25272293 2014
6
A screen for hydroxymethylcytosine and formylcytosine binding proteins suggests functions in transcription and chromatin regulation. 61
24156278 2013
7
DNA mismatch repair enzyme immunohistochemistry in colorectal cancer: a comparison of biopsy and resection material. 61
20632816 2010
8
Turcot syndrome confirmed with molecular analysis. 61
17389002 2007
9
[Morphological and immunohistogenetical features of colon cancer in children]. 61
16830623 2006
10
Down-regulation of DNA mismatch repair proteins in human and murine tumor spheroids: implications for multicellular resistance to alkylating agents. 61
16227397 2005
11
Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. 61
15098177 2004
12
Multiple interacting gene products may influence susceptibility to malignant hyperthermia. 61
11415515 2000

Variations for Malignant Hyperthermia 6

Expression for Malignant Hyperthermia 6

Search GEO for disease gene expression data for Malignant Hyperthermia 6.

Pathways for Malignant Hyperthermia 6

GO Terms for Malignant Hyperthermia 6

Sources for Malignant Hyperthermia 6

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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