DMAT
MCID: DST103
MIFTS: 30

Distal Muscular Dystrophy with Anterior Tibial Onset (DMAT)

Categories: Muscle diseases

Aliases & Classifications for Distal Muscular Dystrophy with Anterior Tibial Onset

MalaCards integrated aliases for Distal Muscular Dystrophy with Anterior Tibial Onset:

Name: Distal Muscular Dystrophy with Anterior Tibial Onset 12 15
Dmat 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111187

Summaries for Distal Muscular Dystrophy with Anterior Tibial Onset

Disease Ontology : 12 A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has material basis in homozygous or compound heterozygous mutation in DYSF on 2p13.

MalaCards based summary : Distal Muscular Dystrophy with Anterior Tibial Onset, also known as dmat, is related to myopathy, distal, with anterior tibial onset and breast cancer. An important gene associated with Distal Muscular Dystrophy with Anterior Tibial Onset is TBCA (Tubulin Folding Cofactor A), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Beta-Adrenergic Signaling. Affiliated tissues include adipocyte, heart and breast, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Distal Muscular Dystrophy with Anterior Tibial Onset

Diseases related to Distal Muscular Dystrophy with Anterior Tibial Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy, distal, with anterior tibial onset 11.9
2 breast cancer 10.2
3 adrenocortical carcinoma, hereditary 10.2
4 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
5 adrenal cortical carcinoma 10.2
6 adrenal cortical adenocarcinoma 10.2
7 spermatogenic failure 6 9.6 PRKD1 CSNK2A2

Graphical network of the top 20 diseases related to Distal Muscular Dystrophy with Anterior Tibial Onset:



Diseases related to Distal Muscular Dystrophy with Anterior Tibial Onset

Symptoms & Phenotypes for Distal Muscular Dystrophy with Anterior Tibial Onset

GenomeRNAi Phenotypes related to Distal Muscular Dystrophy with Anterior Tibial Onset according to GeneCards Suite gene sharing:

26 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.19 CSNK2A1
2 Decreased viability GR00173-A 10.19 CSNK2A2
3 Decreased viability GR00221-A-1 10.19 AKT1 CSNK2A1 CSNK2A2 UCK2
4 Decreased viability GR00221-A-2 10.19 AKT1 CSNK2A1 CSNK2A2 PIM1 UCK2
5 Decreased viability GR00221-A-3 10.19 AKT1 PIM1 PIM3
6 Decreased viability GR00221-A-4 10.19 AKT1 CSNK2A2 DYRK1A DYSF PIM3
7 Decreased viability GR00240-S-1 10.19 CSNK2A2
8 Decreased viability GR00249-S 10.19 AKT1
9 Decreased viability GR00301-A 10.19 DYSF
10 Decreased viability GR00386-A-1 10.19 DYRK1A
11 Decreased viability GR00402-S-2 10.19 UCK2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.83 CSNK2B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.83 CSNK2B UCK2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.83 UCK2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.83 UCK2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.83 PIM1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.83 PRKD1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.83 CSNK2B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.83 CSNK2B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.83 PIM1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 CSNK2B
22 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.83 PIM1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.83 CSNK2B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.83 UCK2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.83 AKT1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.83 PIM1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.83 PIM1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.83 CSNK2B
29 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 PIM1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.83 CSNK2B
31 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.83 AKT1 PRKD1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.83 AKT1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.83 PRKD1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.83 PIM1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 UCK2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.83 PIM1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.83 AKT1 CSNK2B PIM1 PRKD1 UCK2
38 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.63 CSNK2A1 CSNK2A2 DYRK1A PIM1 PRKD1 UCK2
39 Decreased 12E8 tau but not total tau protein expression and decreased ratio of 12E8/total tau protein expression GR00143-A 9.26 DYRK1A PIM1

Drugs & Therapeutics for Distal Muscular Dystrophy with Anterior Tibial Onset

Search Clinical Trials , NIH Clinical Center for Distal Muscular Dystrophy with Anterior Tibial Onset

Genetic Tests for Distal Muscular Dystrophy with Anterior Tibial Onset

Anatomical Context for Distal Muscular Dystrophy with Anterior Tibial Onset

MalaCards organs/tissues related to Distal Muscular Dystrophy with Anterior Tibial Onset:

40
Adipocyte, Heart, Breast, Prostate, Endothelial

Publications for Distal Muscular Dystrophy with Anterior Tibial Onset

Articles related to Distal Muscular Dystrophy with Anterior Tibial Onset:

(show top 50) (show all 160)
# Title Authors PMID Year
1
Medical Transport for 769 COVID-19 Patients on a Cruise Ship by Japan Disaster Medical Assistance Team. 61
32498735 2020
2
β-catenin stimulates Tcf7l1 degradation through recruitment of casein kinase 2 in mouse embryonic stem cells. 61
31987502 2020
3
Multitarget Anticancer Agents Based on Histone Deacetylase and Protein Kinase CK2 inhibitors. 61
32218358 2020
4
Handling and packaging of medical bags at acute disaster sites under high-temperature conditions. 61
32178722 2020
5
A Near-infrared Turn-on Fluorescent Sensor for Sensitive and Specific Detection of Albumin from Urine Samples. 61
32102360 2020
6
Relationship between cyclopiazonic acid production and gene expression in Penicillium griseofulvum under dry-cured ham processing environmental conditions. 61
30972701 2019
7
Early Main Group Metal Catalysts for Imine Hydrosilylation. 61
31617621 2019
8
Total Synthesis of (-)-Clavicipitic Acid via γ,γ-Dimethylallyltryptophan (DMAT) and Chemoselective C-H Hydroxylation. 61
31120249 2019
9
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. 61
31019989 2019
10
Consideration of Medical and Public Health Coordination - Experience from the 2016 Kumamoto, Japan Earthquake. 61
30981285 2019
11
Assessment of the disaster medical response system through an investigation of a 43-vehicle mass collision on Jung-ang expressway. 61
30468947 2019
12
Novel small molecule protein kinase CK2 inhibitors exert potent antitumor effects on T98G and SEGA cells in vitro. 61
31588710 2019
13
Casein kinase-II inhibition promotes retinal ganglion cell survival and axonal regeneration. 61
30118655 2018
14
Antiferromagnetic ordering based on intermolecular London dispersion interactions in amphiphilic TEMPO ammonium salts. 61
30452043 2018
15
Comparative Transcriptome Analysis Between a Spontaneous Albino Mutant and Its Sibling Strain of Cordyceps militaris in Response to Light Stress. 61
29937763 2018
16
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases. 61
30171533 2018
17
Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion. 61
30171536 2018
18
Changes to the Korean Disaster Medical Assistance System After Numerous Multi-casualty Incidents in 2014 and 2015. 61
28659222 2017
19
Nation-Wide Implementation of Disaster Medical Coordinators in Japan. 61
28890523 2017
20
Investigation of Japan Disaster Medical Assistance Team response guidelines assuming catastrophic damage from a Nankai Trough earthquake. 61
29123878 2017
21
DNA Polymerase Inhibition by High Kinetic Stability of T-HgII-T Base Pairs. 61
28446332 2017
22
[The Resources and Management Necessary for the Activities of a Disaster Medical Assistance Team]. 61
30802010 2017
23
Characterization of Aspergillus sojae Isolated from Meju, Korean Traditional Fermented Soybean Brick. 61
27880961 2017
24
Marrow Adipose Tissue: Skeletal Location, Sexual Dimorphism, and Response to Sex Steroid Deficiency. 61
28824548 2017
25
Post-Traumatic Stress Symptoms and Burnout Among Medical Rescue Workers 4 Years After the Great East Japan Earthquake: A Longitudinal Study. 61
27188495 2016
26
Molecular and mycotoxigenic biodiversity of Aspergillus flavus isolated from Brazil nuts. 61
28460913 2016
27
[Switch from emergency medicine to disaster medicine]. 61
26915255 2016
28
ASSOCIATION BETWEEN THE RISK OF TESTICULAR TORSION AMONG ACUTE SCROTUM AND AMBIENT TEMPERATURE. 61
29070736 2016
29
Empirical validation of the diffusion model for recognition memory and a comparison of parameter-estimation methods. 61
25281426 2015
30
Does accountability for reasonableness work? A protocol for a mixed methods study using an audit tool to evaluate the decision-making of clinical commissioning groups in England. 61
26163034 2015
31
Development of the Japanese National Disaster Medical System and Experiences during the Great East Japan Earthquake. 61
26306054 2015
32
Quantitative analysis of purine nucleotides indicates that purinosomes increase de novo purine biosynthesis. 61
25605736 2015
33
Quinone reductase 2 is an adventitious target of protein kinase CK2 inhibitors TBBz (TBI) and DMAT. 61
25379648 2015
34
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. 61
26045819 2015
35
A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence. 61
26029720 2015
36
Experience from the Great East Japan Earthquake response as the basis for revising the Japanese Disaster Medical Assistance Team (DMAT) training program. 61
25410400 2014
37
Safety evaluation of filamentous fungi isolated from industrial doenjang koji. 61
24986679 2014
38
A critical role for CK2 in cytokine-induced activation of NFκB in pancreatic β cell death. 61
24366643 2014
39
Human adipocyte function is impacted by mechanical cues. 61
24623048 2014
40
An evaluation of aflatoxin and cyclopiazonic acid production in Aspergillus oryzae. 61
24853527 2014
41
Isolation, structural elucidation and biosynthesis of 3-hydroxy-6-dimethylallylindolin-2-one, a novel prenylated indole derivative from Actinoplanes missouriensis. 61
24220111 2014
42
Tenfibgen-DMAT Nanocapsule Delivers CK2 Inhibitor DMAT to Prostate Cancer Xenograft Tumors Causing Inhibition of Cell Proliferation. 61
25893034 2014
43
[Role of pharmacists during serious natural disasters: report from Ishinomaki, the disaster-struck city]. 61
24389611 2014
44
Synergistic anti-leukemic effects of CK2 inhibitors and pentabromobenzylisothioureas in vitro. 61
24222126 2013
45
Physical properties of superbulky lanthanide metallocenes: synthesis and extraordinary luminescence of [Eu(II)(Cp(BIG))2] (Cp(BIG) = (4-nBu-C6H4)5-cyclopentadienyl). 61
23907896 2013
46
Antisense therapy in neurology. 61
25562650 2013
47
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. 61
23254335 2013
48
Nonclinical core competencies and effects of interprofessional teamwork in disaster and emergency response training and practice: a pilot study. 61
24229523 2013
49
Heart rate variability moderates the association between attachment avoidance and self-concept reorganization following marital separation. 61
22542651 2013
50
Novel tryptophan metabolism by a potential gene cluster that is widely distributed among actinomycetes. 61
23430264 2013

Variations for Distal Muscular Dystrophy with Anterior Tibial Onset

Expression for Distal Muscular Dystrophy with Anterior Tibial Onset

Search GEO for disease gene expression data for Distal Muscular Dystrophy with Anterior Tibial Onset.

Pathways for Distal Muscular Dystrophy with Anterior Tibial Onset

Pathways related to Distal Muscular Dystrophy with Anterior Tibial Onset according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 DYRK1A CSNK2B CSNK2A2 CSNK2A1 AKT1
2
Show member pathways
12.55 PRKD1 CSNK2B CSNK2A2 CSNK2A1 AKT1
3
Show member pathways
12.43 CSNK2B CSNK2A2 CSNK2A1 AKT1
4
Show member pathways
12.39 PRKD1 CSNK2B CSNK2A2 CSNK2A1 AKT1
5
Show member pathways
12.36 PRKD1 CSNK2B CSNK2A2 CSNK2A1
6
Show member pathways
12.25 PRKD1 CSNK2B CSNK2A2 CSNK2A1
7
Show member pathways
12.23 DYRK1A CSNK2B CSNK2A2 CSNK2A1 AKT1
8
Show member pathways
12.22 CSNK2B CSNK2A2 CSNK2A1 AKT1
9
Show member pathways
12.17 TBCA CSNK2B CSNK2A2 CSNK2A1
10
Show member pathways
11.85 CSNK2B CSNK2A2 CSNK2A1
11 11.8 PIM1 MAOA AKT1
12 11.77 CSNK2B CSNK2A2 CSNK2A1
13 11.73 CSNK2B CSNK2A2 CSNK2A1
14 11.46 CSNK2B CSNK2A2 CSNK2A1
15 11.41 CSNK2B CSNK2A2 CSNK2A1
16 10.88 CSNK2B CSNK2A2 CSNK2A1
17 10.71 CSNK2B CSNK2A2 CSNK2A1
18 10.45 CSNK2B CSNK2A2 CSNK2A1
19
Show member pathways
10 CSNK2B CSNK2A2 CSNK2A1

GO Terms for Distal Muscular Dystrophy with Anterior Tibial Onset

Cellular components related to Distal Muscular Dystrophy with Anterior Tibial Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PcG protein complex GO:0031519 9.13 CSNK2B CSNK2A2 CSNK2A1
2 protein kinase CK2 complex GO:0005956 8.8 CSNK2B CSNK2A2 CSNK2A1

Biological processes related to Distal Muscular Dystrophy with Anterior Tibial Onset according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.91 PRKD1 PIM3 PIM1 CSNK2A2 CSNK2A1 COA8
2 protein phosphorylation GO:0006468 9.87 PRKD1 PIM3 PIM1 DYRK1A CSNK2A2 CSNK2A1
3 protein folding GO:0006457 9.78 TBCA CSNK2B CSNK2A2 CSNK2A1
4 regulation of signal transduction by p53 class mediator GO:1901796 9.76 CSNK2B CSNK2A2 CSNK2A1 AKT1
5 macroautophagy GO:0016236 9.71 CSNK2B CSNK2A2 CSNK2A1
6 positive regulation of endothelial cell proliferation GO:0001938 9.69 PRKD1 DYSF AKT1
7 protein autophosphorylation GO:0046777 9.65 PRKD1 PIM3 PIM1 DYRK1A AKT1
8 phosphatidylcholine biosynthetic process GO:0006656 9.61 CSNK2B CSNK2A2 CSNK2A1
9 phosphorylation GO:0016310 9.61 UCK2 PRKD1 PIM3 PIM1 DYRK1A CSNK2B
10 exogenous drug catabolic process GO:0042738 9.58 CYP2A7 CYP2A13
11 organic acid metabolic process GO:0006082 9.57 CYP2A7 CYP2A13
12 epoxygenase P450 pathway GO:0019373 9.56 CYP2A7 CYP2A13
13 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.55 CSNK2A2 CSNK2A1
14 peptidyl-serine phosphorylation GO:0018105 9.55 PRKD1 DYRK1A CSNK2A2 CSNK2A1 AKT1
15 hyaluronan metabolic process GO:0030212 9.52 PIM1 AKT1
16 coumarin metabolic process GO:0009804 9.49 CYP2A7 CYP2A13
17 regulation of chromosome separation GO:1905818 9.4 CSNK2A2 CSNK2A1
18 peptidyl-threonine phosphorylation GO:0018107 9.1 PRKD1 DYRK1A CSNK2B CSNK2A2 CSNK2A1 AKT1

Molecular functions related to Distal Muscular Dystrophy with Anterior Tibial Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.97 UCK2 PRKD1 PIM3 PIM1 DYRK1A CSNK2A2
2 nucleotide binding GO:0000166 9.92 UCK2 PRKD1 PIM3 PIM1 DYRK1A CSNK2A2
3 ATP binding GO:0005524 9.86 UCK2 PRKD1 PIM3 PIM1 DYRK1A CSNK2A2
4 protein kinase activity GO:0004672 9.7 PRKD1 PIM3 PIM1 DYRK1A CSNK2A2 CSNK2A1
5 kinase activity GO:0016301 9.61 UCK2 PRKD1 PIM3 PIM1 DYRK1A CSNK2B
6 aromatase activity GO:0070330 9.43 CYP2A7 CYP2A13
7 arachidonic acid epoxygenase activity GO:0008392 9.4 CYP2A7 CYP2A13
8 protein serine/threonine kinase activity GO:0004674 9.23 PRKD1 PIM3 PIM1 DYRK1A CSNK2B CSNK2A2

Sources for Distal Muscular Dystrophy with Anterior Tibial Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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