MMD2
MCID: MYS019
MIFTS: 19

Miyoshi Muscular Dystrophy 2 (MMD2)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Miyoshi Muscular Dystrophy 2

MalaCards integrated aliases for Miyoshi Muscular Dystrophy 2:

Name: Miyoshi Muscular Dystrophy 2 57 12 29 13 70
Miyoshi Myopathy 2 57 12
Mmd2 57 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070200
OMIM® 57 613318
OMIM Phenotypic Series 57 PS254130
UMLS 70 C2750077

Summaries for Miyoshi Muscular Dystrophy 2

Disease Ontology : 12 A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has material basis in a locus on chromosome 10.

MalaCards based summary : Miyoshi Muscular Dystrophy 2, also known as miyoshi myopathy 2, is related to miyoshi muscular dystrophy and miyoshi muscular dystrophy 3. An important gene associated with Miyoshi Muscular Dystrophy 2 is MMD2 (Monocyte To Macrophage Differentiation Associated 2). Affiliated tissues include breast and myeloid.

More information from OMIM: 613318 PS254130

Related Diseases for Miyoshi Muscular Dystrophy 2

Diseases in the Miyoshi Muscular Dystrophy family:

Miyoshi Muscular Dystrophy 1 Miyoshi Muscular Dystrophy 2
Miyoshi Muscular Dystrophy 3

Diseases related to Miyoshi Muscular Dystrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 11.1
2 miyoshi muscular dystrophy 3 10.9
3 mature cataract 10.9

Symptoms & Phenotypes for Miyoshi Muscular Dystrophy 2

Clinical features from OMIM®:

613318 (Updated 05-Apr-2021)

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 2

Search Clinical Trials , NIH Clinical Center for Miyoshi Muscular Dystrophy 2

Genetic Tests for Miyoshi Muscular Dystrophy 2

Genetic tests related to Miyoshi Muscular Dystrophy 2:

# Genetic test Affiliating Genes
1 Miyoshi Muscular Dystrophy 2 29

Anatomical Context for Miyoshi Muscular Dystrophy 2

MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 2:

40
Breast, Myeloid

Publications for Miyoshi Muscular Dystrophy 2

Articles related to Miyoshi Muscular Dystrophy 2:

(show all 19)
# Title Authors PMID Year
1
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. 57
9673985 1998
2
Astrocyte-Specific Deletion of Sox2 Promotes Functional Recovery After Traumatic Brain Injury. 61
29161339 2019
3
Genome-wide differences in DNA methylation changes in caprine ovaries between oestrous and dioestrous phases. 61
30524725 2018
4
Low Body Mass Index in Endometriosis Is Promoted by Hepatic Metabolic Gene Dysregulation in Mice. 61
27628219 2016
5
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. 61
23530687 2013
6
Identification of novel predictor classifiers for inflammatory bowel disease by gene expression profiling. 61
24155895 2013
7
Magnolol inhibits lipopolysaccharide-induced inflammatory response by interfering with TLR4 mediated NF-κB and MAPKs signaling pathways. 61
23127653 2013
8
Mechanisms of the hepatoprotective effects of tamoxifen against drug-induced and chemical-induced acute liver injuries. 61
22841776 2012
9
Sox9 and NFIA coordinate a transcriptional regulatory cascade during the initiation of gliogenesis. 61
22500632 2012
10
Hepatic gene expression analysis of 2-aminoanthracene exposed Fisher-344 rats reveal patterns indicative of liver carcinoma and type 2 diabetes. 61
23038007 2012
11
Mesenchymal stem cell derived hematopoietic cells are permissive to HIV-1 infection. 61
21226936 2011
12
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. 61
20570966 2010
13
New monoclonal anti-mouse DC-SIGN antibodies reactive with acetone-fixed cells. 61
20558171 2010
14
The biological, clinical and prognostic implications of p53 transcriptional pathways in breast cancers. 61
20044801 2010
15
Exploring the 7p22.1 chromosome as a candidate region for autism. 61
20414355 2010
16
Molecular analysis of the Ink4a/Rb1-Arf/Tp53 pathways in radon-induced rat lung tumors. 61
18656278 2009
17
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. 61
17132147 2007
18
Cell activation by Porphyromonas gingivalis lipid A molecule through Toll-like receptor 4- and myeloid differentiation factor 88-dependent signaling pathway. 61
12407023 2002
19
Leucyl-leucine methyl ester-treated haploidentical donor lymphocyte infusions can mediate graft-versus-leukemia activity with minimal graft-versus-host disease risk. 61
12108916 2002

Variations for Miyoshi Muscular Dystrophy 2

Expression for Miyoshi Muscular Dystrophy 2

Search GEO for disease gene expression data for Miyoshi Muscular Dystrophy 2.

Pathways for Miyoshi Muscular Dystrophy 2

GO Terms for Miyoshi Muscular Dystrophy 2

Sources for Miyoshi Muscular Dystrophy 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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