MCID: MYT002
MIFTS: 52

Myotonic Dystrophy

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Myotonic Dystrophy

MalaCards integrated aliases for Myotonic Dystrophy:

Name: Myotonic Dystrophy 77 54 26 38 30 56 6 74
Dystrophia Myotonica 54 26
Myotonia Dystrophica 54 26
Myotonia Atrophica 54 26
Myotonic Dystrophy 1 74

Classifications:



External Ids:

KEGG 38 H00568

Summaries for Myotonic Dystrophy

NIH Rare Diseases : 54 Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person�??s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the disease may vary among affected people, even among members of the same family. Myotonic dystrophy is caused by mutations (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of myotonic dystrophy. The disease is inherited in an autosomal dominant manner. Myotonic dystrophy may be diagnosed when a healthcare provider observes signs and symptoms of the disease, and the diagnosis may be confirmed with tests of muscle function and genetic testing. Treatment is based on each person�??s specific signs and symptoms and may include physical therapy, pain management with medication, and consultation with specialists. 

MalaCards based summary : Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy 2 and myotonic dystrophy 1, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy is DMPK (DM1 Protein Kinase). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and skeletal muscle, and related phenotypes are Condensed cis-Golgi and Increased cell viability after pRB stimulation

Genetics Home Reference : 26 Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

Wikipedia : 77 Myotonic dystrophy is a long term genetic disorder that affects muscle function. Symptoms include... more...

Related Diseases for Myotonic Dystrophy

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1 Myotonic Dystrophy 2

Diseases related to Myotonic Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 289)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 2 33.7 CLCN1 CNBP DMPK MBNL1
2 myotonic dystrophy 1 32.9 CELF1 CLCN1 CNBP DMPK MBNL1 MBNL3
3 myotonia 30.5 CLCN1 CNBP DMPK
4 myotonia congenita 30.0 CLCN1 CNBP
5 muscular disease 28.3 CELF1 CKM CLCN1 CNBP DMPK MBNL1
6 myotonic disease 28.1 CLCN1 CNBP DMPK MBNL1 MBNL3 SIX5
7 myotonia atrophica 12.3
8 dysphagia 11.5
9 pilomatrixoma 11.5
10 hypotonia 11.2
11 infantile hypotonia 11.2
12 swallowing disorders 11.2
13 floppy infant syndrome 11.2
14 myopathy 10.6
15 muscular dystrophy 10.6
16 cataract 10.5
17 neuropathy 10.5
18 diabetes mellitus, noninsulin-dependent 10.5
19 atrial fibrillation 10.5
20 muscular atrophy 10.4
21 muscular dystrophy, duchenne type 10.3
22 hyperparathyroidism 10.3
23 peripheral nervous system disease 10.3
24 myasthenia gravis 10.3
25 thymoma, familial 10.3
26 polyglucosan body myopathy 1 with or without immunodeficiency 10.3
27 sensory peripheral neuropathy 10.3
28 thymoma 10.3
29 myasthenia gravis congenital 10.3
30 charcot-marie-tooth disease 10.3
31 hydrocephalus 10.3
32 respiratory failure 10.3
33 melanoma 10.3
34 hypogonadism 10.3
35 hypogonadotropism 10.3
36 rere-related disorders 10.3
37 hypersomnia 10.3
38 cardiac conduction defect 10.3
39 aging 10.3
40 melanoma, uveal 10.2
41 dilated cardiomyopathy 10.2
42 muscle disorders 10.2
43 sleep apnea 10.2
44 neuromuscular disease 10.2
45 hyperthyroidism 10.2
46 polyhydramnios 10.2
47 depression 10.2
48 craniometaphyseal dysplasia, autosomal dominant 10.2
49 paget disease of bone 3 10.2
50 hypogonadotropic hypogonadism 10.2

Graphical network of the top 20 diseases related to Myotonic Dystrophy:



Diseases related to Myotonic Dystrophy

Symptoms & Phenotypes for Myotonic Dystrophy

UMLS symptoms related to Myotonic Dystrophy:


excessive daytime somnolence, weakness

GenomeRNAi Phenotypes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 9.13 CDC42BPA CKM DMPK
2 Increased cell viability after pRB stimulation GR00230-A-1 8.92 CDC42BPA CDC42BPB CKM DMPK

MGI Mouse Phenotypes related to Myotonic Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CKM CLCN1 DMPK MBNL1 MBNL2 MBNL3

Drugs & Therapeutics for Myotonic Dystrophy

Drugs for Myotonic Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3,Phase 3 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Fesoterodine Approved Phase 3 286930-03-8, 286930-02-7 6918558
5
Acyclovir Approved Phase 3 59277-89-3 2022
6
Apomorphine Approved, Investigational Phase 3 58-00-4, 41372-20-7 6005
7
Levodopa Approved Phase 3 59-92-7 6047
8
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
9
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
10 Immunologic Factors Phase 2, Phase 3
11 Adjuvants, Immunologic Phase 2, Phase 3
12 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
13 Central Nervous System Stimulants Phase 2, Phase 3
14 Dopamine Agents Phase 2, Phase 3,Phase 3
15 Neurotransmitter Agents Phase 2, Phase 3,Phase 3
16 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
17 Dopamine Uptake Inhibitors Phase 2, Phase 3
18 Antipsychotic Agents Phase 3
19 Central Nervous System Depressants Phase 3
20 Calcium, Dietary Phase 3
21 Diuretics, Potassium Sparing Phase 3,Phase 2,Phase 1
22 Sodium Channel Blockers Phase 3,Phase 2,Phase 1
23 Psychotropic Drugs Phase 3
24 Hormones Phase 3
25 Tranquilizing Agents Phase 3
26 calcium channel blockers Phase 3
27 Anticonvulsants Phase 3
28 Cholinergic Antagonists Phase 3
29 Muscarinic Antagonists Phase 3
30 Cholinergic Agents Phase 3
31 Antiviral Agents Phase 3
32 Anti-Infective Agents Phase 3
33 Peripheral Nervous System Agents Phase 3
34 Gastrointestinal Agents Phase 3
35 Autonomic Agents Phase 3
36 Emetics Phase 3
37 Dopamine agonists Phase 3
38
Zinc Approved, Investigational Phase 2 7440-66-6 32051
39
Mecasermin Approved, Investigational Phase 2,Phase 1 68562-41-4
40
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
41 Hypoglycemic Agents Phase 2
42 Insulin, Globin Zinc Phase 2,Phase 1
43 Complement Factor I Phase 2
44 Mitogens Phase 2,Phase 1
45 insulin Phase 2,Phase 1
46 Anti-Arrhythmia Agents Phase 2
47
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
48 Orange Approved Early Phase 1
49
Inulin Approved, Investigational, Nutraceutical Early Phase 1 9005-80-5 24763
50
Fibrinolysin Investigational Not Applicable 9004-09-5

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
2 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
3 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
4 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Long-Term Open-Label Extension Trial for Subjects Completing the Phase 3 Trial of Fesoterodine (SP583) for the Treatment of Overactive Bladder Syndrome Completed NCT00220402 Phase 3 SPM 907
6 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3 SPM 907
7 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
8 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3 Acyclovir Lauriad;Placebo
9 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
10 An Open-Label Phase 3 Study to Examine the Long-Term Safety, Tolerability and Efficacy of APL-130277 for the Acute Treatment of "OFF" Episodes in Patients With Parkinson's Disease Recruiting NCT02542696 Phase 3 APL-130277
11 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
12 Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
13 Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
14 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
15 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
16 Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
17 A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
18 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Unknown status NCT02208713 Phase 1
19 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
20 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
21 Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1 Recruiting NCT03959189 Phase 1 ERX-963;Placebo
22 Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy Unknown status NCT02269865
23 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Unknown status NCT02375087
24 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238 Not Applicable
25 An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Unknown status NCT02708784
26 Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders Unknown status NCT02339402
27 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Unknown status NCT02833168
28 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
29 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
30 Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007 Not Applicable
31 Observational Prolonged Trial in Myotonic Dystrophy Type 1 Completed NCT02118779 Not Applicable
32 Multicenter Observational Study of Myotonic Dystrophy Type 1 Completed NCT02308657
33 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
34 DM1 Heart Registry - DM1 Respiratory Registry Completed NCT01136330
35 Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy Completed NCT01530841 Not Applicable
36 Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
37 Venous Thromboembolism in DM1 Completed NCT03141749
38 Quality of Life in Neuromuscular Disease Completed NCT02895763
39 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
40 Clinical Outcome Measures in Myotonic Dystrophy Type 2 Recruiting NCT03603171
41 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
42 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460 Not Applicable
43 Myotonic Dystrophy Family Registry Recruiting NCT02398786
44 Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy Recruiting NCT02880735 Not Applicable
45 Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM) Recruiting NCT03867435
46 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
47 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
48 Dietary Fibers and Satiety in Bariatric Patients Recruiting NCT03573258 Early Phase 1
49 Prospective Assessment of Allogeneic Hematopoietic Cell Transplantation in Patients With Myelofibrosis Recruiting NCT02934477
50 PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) Active, not recruiting NCT02831504

Search NIH Clinical Center for Myotonic Dystrophy

Genetic Tests for Myotonic Dystrophy

Genetic tests related to Myotonic Dystrophy:

# Genetic test Affiliating Genes
1 Myotonic Dystrophy 30

Anatomical Context for Myotonic Dystrophy

MalaCards organs/tissues related to Myotonic Dystrophy:

42
Testes, Heart, Skeletal Muscle, Brain, Eye, Thyroid, Bone

Publications for Myotonic Dystrophy

Articles related to Myotonic Dystrophy:

(show top 50) (show all 3188)
# Title Authors Year
1
Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest. ( 30484075 )
2019
2
Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1. ( 30994189 )
2019
3
Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I. ( 30898523 )
2019
4
Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy. ( 30906607 )
2019
5
Vertical relapse after orthodontic and orthognathic surgical treatment in a patient with myotonic dystrophy. ( 30919646 )
2019
6
Perceived fatigue in myotonic dystrophy type 1: a case-control study. ( 30922263 )
2019
7
Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model. ( 30926669 )
2019
8
Dysregulation of Calcium Metabolism in Type 1 Myotonic Dystrophy. ( 30963668 )
2019
9
Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1. ( 30975744 )
2019
10
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. ( 31003788 )
2019
11
White Matter Lesions Detected by Magnetic Resonance Imaging in Neonates and Children With Congenital Myotonic Dystrophy. ( 31005477 )
2019
12
Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. ( 31010208 )
2019
13
Myotonic Dystrophy and Anesthetic Challenges: A Case Report and Review. ( 31016049 )
2019
14
Massive abscess with prolonged respiratory failure due to newly diagnosed myotonic dystrophy: A case report. ( 31027145 )
2019
15
Letter of response to "Myotonic dystrophy type 1, individualised respiratory care rather than standart prognostication". ( 31029882 )
2019
16
Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. ( 31048891 )
2019
17
Body Composition in Patients with Congenital Myotonic Dystrophy. ( 31074869 )
2019
18
Myotonic Dystrophy type 1, individualised respiratory care rather than standart prognostication. ( 31077949 )
2019
19
Survival patterns and cancer determinants in families with myotonic dystrophy type 1. ( 30051542 )
2019
20
Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution. ( 30101452 )
2019
21
Normalization of frequency-domain parameters of heart rate variability in patients with myotonic dystrophy. ( 30242945 )
2019
22
Neurophysiological Evidence of Motor Network Reorganization in Myotonic Dystrophy Type 1: A Pilot Magnetoencephalographic Study. ( 30247381 )
2019
23
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1. ( 30304901 )
2019
24
Letter to the Editor: Circulating Adult Stem and Progenitor Cells After Roux-en-Y Gastric Bypass Surgery in Myotonic Dystrophy. ( 30417272 )
2019
25
Correction to: Affinity capillary electrophoresis for identification of active drug candidates in myotonic dystrophy type 1. ( 30443771 )
2019
26
Heart involvement in patients with myotonic dystrophy type 2. ( 30536153 )
2019
27
Gender difference in clinical conditions among hospitalized adults with myotonic dystrophy. ( 30575975 )
2019
28
Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? ( 30615069 )
2019
29
Reply: Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? ( 30615109 )
2019
30
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice. ( 30628727 )
2019
31
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. ( 30659139 )
2019
32
Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. ( 30672388 )
2019
33
The myotonic dystrophy experience: a North American cross-sectional study. ( 30677147 )
2019
34
Health-related quality of life and its correlates in Japanese patients with myotonic dystrophy type 1. ( 30679907 )
2019
35
The Myotonic Dystrophy Health Index: Japanese Adaption and Validity Testing. ( 30681157 )
2019
36
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. ( 30685181 )
2019
37
Comprehensive investigations are required to manage cardiac disease in myotonic dystrophy 2. ( 30693450 )
2019
38
Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study. ( 30706460 )
2019
39
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. ( 30714084 )
2019
40
Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes. ( 30730308 )
2019
41
Multiple pilomatrixomas as a presentation of myotonic dystrophy. ( 30734963 )
2019
42
Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2. ( 30739220 )
2019
43
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance. ( 30760283 )
2019
44
A neurodevelopmental approach to myotonic dystrophy type 1. ( 30761521 )
2019
45
Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1. ( 30767060 )
2019
46
Disease burden of myotonic dystrophy type 1. ( 30788616 )
2019
47
Body composition analysis in patients with myotonic dystrophy types 1 and 2. ( 30790082 )
2019
48
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study. ( 30798109 )
2019
49
Progressive decline in daily and social activities: A 9-year longitudinal study of participation in myotonic dystrophy type 1. ( 30831092 )
2019
50
What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. ( 30836978 )
2019

Variations for Myotonic Dystrophy

ClinVar genetic disease variations for Myotonic Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DMPK NM_001081560.2(DMPK): c.1462C> T (p.Arg488Cys) single nucleotide variant Likely benign rs78771765 GRCh37 Chromosome 19, 46275054: 46275054
2 DMPK NM_001081560.2(DMPK): c.1462C> T (p.Arg488Cys) single nucleotide variant Likely benign rs78771765 GRCh38 Chromosome 19, 45771796: 45771796
3 DMPK NM_001081560.2(DMPK): c.643G> A (p.Gly215Ser) single nucleotide variant Uncertain significance rs747348407 GRCh37 Chromosome 19, 46281417: 46281417
4 DMPK NM_001081560.2(DMPK): c.643G> A (p.Gly215Ser) single nucleotide variant Uncertain significance rs747348407 GRCh38 Chromosome 19, 45778159: 45778159
5 DMPK NM_001081562.2(DMPK): c.1678C> T (p.Gln560Ter) single nucleotide variant Uncertain significance rs536277584 GRCh37 Chromosome 19, 46274269: 46274269
6 DMPK NM_001081562.2(DMPK): c.1678C> T (p.Gln560Ter) single nucleotide variant Uncertain significance rs536277584 GRCh38 Chromosome 19, 45771011: 45771011

Expression for Myotonic Dystrophy

Search GEO for disease gene expression data for Myotonic Dystrophy.

Pathways for Myotonic Dystrophy

GO Terms for Myotonic Dystrophy

Cellular components related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 CDC42BPA CDC42BPB CELF1 CKM CNBP DMPK
2 cell leading edge GO:0031252 9.16 CDC42BPA CDC42BPB
3 actomyosin GO:0042641 8.62 CDC42BPA CDC42BPB

Biological processes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.56 CELF1 MBNL1 MBNL2 MBNL3
2 RNA splicing GO:0008380 9.46 CELF1 MBNL1 MBNL2 MBNL3
3 actin cytoskeleton reorganization GO:0031532 9.37 CDC42BPA CDC42BPB
4 actomyosin structure organization GO:0031032 9.32 CDC42BPA CDC42BPB
5 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.26 CELF1 MBNL1 MBNL2 MBNL3
6 regulation of RNA splicing GO:0043484 8.92 CELF1 MBNL1 MBNL2 MBNL3

Molecular functions related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.28 CDC42BPA CDC42BPB CNBP DMPK MBNL1 MBNL2

Sources for Myotonic Dystrophy

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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