MCID: MYT002
MIFTS: 50

Myotonic Dystrophy

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

Aliases & Classifications for Myotonic Dystrophy

MalaCards integrated aliases for Myotonic Dystrophy:

Name: Myotonic Dystrophy 76 53 25 37 29 55 6 73
Dystrophia Myotonica 53 25
Myotonia Dystrophica 53 25
Myotonia Atrophica 53 25
Myotonic Dystrophy 1 73

Classifications:



External Ids:

KEGG 37 H00568
UMLS 73 C3250443

Summaries for Myotonic Dystrophy

NIH Rare Diseases : 53 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 Lamotrigine 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 : 25 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 : 76 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 208)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 2 32.7 CLCN1 CNBP DMPK MBNL1
2 myotonic dystrophy 1 31.1 CELF1 CLCN1 CNBP DMPK MBNL1 MBNL3
3 myotonia congenita 29.3 CLCN1 CNBP
4 myotonia 28.7 CLCN1 CNBP DMPK LOC108644431 LOC109461477 MBNL1
5 myotonic disease 26.1 CLCN1 CNBP DMPK MBNL1 MBNL3 SIX5
6 myotonia atrophica 12.1
7 dysphagia 11.3
8 pilomatrixoma 11.3
9 floppy infant syndrome 11.0
10 hypotonia 11.0
11 infantile hypotonia 11.0
12 swallowing disorders 11.0
13 myopathy 10.4
14 aging 10.3
15 muscular dystrophy 10.3
16 type i 10.3
17 neuropathy 10.2
18 diabetes mellitus, noninsulin-dependent 10.2
19 cataract 10.2
20 cerebritis 10.2
21 atrial fibrillation 10.2
22 hypersomnia 10.1
23 sleep disorder 10.1
24 neuronitis 10.1
25 cardiac conduction defect 10.1
26 myasthenia gravis 10.1
27 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
28 hypogonadism 10.1
29 peripheral nervous system disease 10.1
30 muscular atrophy 10.1
31 polyhydramnios 10.1
32 myasthenia gravis congenital 10.1
33 endotheliitis 10.1
34 hydrocephalus 10.0
35 neuromuscular disease 10.0
36 amyotrophic lateral sclerosis 1 10.0
37 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
38 muscular dystrophy, becker type 10.0
39 fragile x syndrome 10.0
40 muscular dystrophy, duchenne type 10.0
41 spinal muscular atrophy 10.0
42 restless legs syndrome 10.0
43 cholelithiasis 10.0
44 respiratory failure 10.0
45 autosomal dominant cerebellar ataxia 10.0
46 epilepsy 10.0
47 lateral sclerosis 10.0
48 corneal dystrophy 10.0
49 thymoma 10.0
50 laryngitis 10.0

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:

26
# 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:

46
# 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 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3,Phase 3 51-61-6, 62-31-7 681
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
4
Acyclovir Approved Phase 3 59277-89-3 2022
5
Fesoterodine Approved Phase 3 286930-03-8, 286930-02-7 6918558
6
Levodopa Approved Phase 3 59-92-7 6047
7
Apomorphine Approved, Investigational Phase 3 41372-20-7, 58-00-4 6005
8
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
9 calcium channel blockers Phase 3
10 Adjuvants, Immunologic Phase 2, Phase 3
11 Central Nervous System Stimulants Phase 2, Phase 3
12 Cholinergic Agents Phase 3
13 Muscarinic Antagonists Phase 3
14 Cholinergic Antagonists Phase 3
15 Sodium Channel Blockers Phase 3,Phase 2
16 Neurotransmitter Agents Phase 2, Phase 3,Phase 3
17 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
18 Diuretics, Potassium Sparing Phase 3,Phase 2
19 Dopamine Agents Phase 2, Phase 3,Phase 3
20 Dopamine Uptake Inhibitors Phase 2, Phase 3
21 Excitatory Amino Acid Antagonists Phase 3
22 Excitatory Amino Acids Phase 3
23 Anticonvulsants Phase 3
24 Anti-Infective Agents Phase 3
25 Antiviral Agents Phase 3
26 Calcium, Dietary Phase 3
27 Dopamine agonists Phase 3
28 Gastrointestinal Agents Phase 3
29 Emetics Phase 3
30 Peripheral Nervous System Agents Phase 3
31 Autonomic Agents Phase 3
32 DHEA (Dehydroepiandrosterone) Nutraceutical Phase 2, Phase 3
33
Zinc Approved, Investigational Phase 2 7440-66-6 23994
34
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
35
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
36
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
37
Exemestane Approved, Investigational Phase 2 107868-30-4 60198
38
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
39
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
40
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
41
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
42 insulin Phase 2,Phase 1
43 Mitogens Phase 2,Phase 1
44 Complement Factor I Phase 2
45 Hypoglycemic Agents Phase 2
46 Insulin, Globin Zinc Phase 2,Phase 1
47 Anti-Arrhythmia Agents Phase 2
48 Fertility Agents Phase 2
49 Steroid Synthesis Inhibitors Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 52)
# 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 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
13 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
14 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
15 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
16 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
17 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 2 Ranolazine
18 NEOADjuvant Aromatase Inhibitor and Pertuzumab/Trastuzumab for Women With Breast Cancer Recruiting NCT02689921 Phase 2 Exemestane;Letrozole;Anastrozole;Leuprolide Acetate;Pertuzumab;Trastuzumab
19 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
20 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
21 Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy Unknown status NCT02269865
22 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238 Not Applicable
23 An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Unknown status NCT02708784
24 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Unknown status NCT02833168
25 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
26 Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007 Not Applicable
27 Observational Prolonged Trial in Myotonic Dystrophy Type 1 Completed NCT02118779 Not Applicable
28 Multicenter Observational Study of Myotonic Dystrophy Type 1 Completed NCT02308657
29 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
30 DM1 Heart Registry - DM1 Respiratory Registry Completed NCT01136330
31 Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy Completed NCT01530841 Not Applicable
32 Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
33 Venous Thromboembolism in DM1 Completed NCT03141749
34 Quality of Life in Neuromuscular Disease Completed NCT02895763
35 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
36 Myotonic Dystrophy Family Registry Recruiting NCT02398786
37 Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy Recruiting NCT02880735 Not Applicable
38 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Recruiting NCT02375087
39 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
40 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
41 Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders Recruiting NCT02339402
42 Dietary Fibers and Satiety in Bariatric Patients Recruiting NCT03573258 Early Phase 1
43 Prospective Assessment of Allogeneic Hematopoietic Cell Transplantation in Patients With Myelofibrosis Recruiting NCT02934477
44 PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) Active, not recruiting NCT02831504
45 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923
46 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
47 Venous Thromboembolism in Myotonic Dystrophy Type 1 Not yet recruiting NCT03424460 Not Applicable
48 Burnout Preventions, Professionalism Heightening, and Enhancing Resiliency (BUPHER) Not yet recruiting NCT02963792 Not Applicable
49 Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects Terminated NCT02930408 Not Applicable
50 Development of New Prenatal Diagnostic Tests From Maternal Blood Terminated NCT00314691 Not Applicable

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 29

Anatomical Context for Myotonic Dystrophy

MalaCards organs/tissues related to Myotonic Dystrophy:

41
Testes, Heart, Skeletal Muscle, Brain, Liver, Endothelial, Lung

Publications for Myotonic Dystrophy

Articles related to Myotonic Dystrophy:

(show top 50) (show all 1380)
# Title Authors Year
1
Recurrence of Gastric Masses in a Neonate with Congenital Myotonic Dystrophy. ( 29383602 )
2018
2
Ankle Strength Impairments in Myotonic Dystrophy Type 1: A Five-Year Follow-up. ( 29889079 )
2018
3
Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1. ( 29771332 )
2018
4
Participation and the Role of Neuropsychological Functioning in Myotonic Dystrophy Type 1. ( 29865086 )
2018
5
Hearing impairment in patients with myotonic dystrophy type 2. ( 29343467 )
2018
6
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
7
Coexistence of Ankylosing Spondylitis and Myotonic Dystrophy: Camptocormia or Thoracic Ankylosis. ( 29465620 )
2018
8
Correction: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a <i>Drosophila</i> model of myotonic dystrophy (doi: 10.1242/dmm.032557). ( 29784710 )
2018
9
Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1. ( 29394960 )
2018
10
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. ( 29955039 )
2018
11
Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency. ( 29367875 )
2018
12
Validation of The Individualized Neuromuscular Quality of Life in Japanese patients with myotonic dystrophy. ( 29342319 )
2018
13
A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1. ( 29785524 )
2018
14
Erratum: Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness [Corrigendum]. ( 29873326 )
2018
15
Cells of Matter-<i>In Vitro</i> Models for Myotonic Dystrophy. ( 29875732 )
2018
16
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. ( 29934199 )
2018
17
Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1. ( 29381654 )
2018
18
miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models. ( 29946070 )
2018
19
Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1. ( 29867749 )
2018
20
Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1: A case report. ( 29369170 )
2018
21
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. ( 29967337 )
2018
22
Left atrial low-voltage zone ablation of persistent atrial fibrillation in a patient with myotonic dystrophy: A case report. ( 29951149 )
2018
23
Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness. ( 29445282 )
2018
24
Recapitulating muscle disease phenotypes with myotonic dystrophy 1 iPS cells: a tool for disease modeling and drug discovery. ( 29898953 )
2018
25
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1. ( 29404559 )
2018
26
Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells. ( 29947794 )
2018
27
Orofacial strength, dysarthria, and dysphagia in Congenital Myotonic Dystrophy. ( 29901230 )
2018
28
rbFOX1/MBNL1 competition for CCUG RNA repeats bindingA contributes to myotonic dystrophy typeA 1/typeA 2 differences. ( 29789616 )
2018
29
Altered power spectral density in the resting-state sensorimotor network in patients with myotonic dystrophy type 1. ( 29343751 )
2018
30
Clinical neuropsychology in the management of myotonic dystrophy. ( 29381813 )
2018
31
Myotonic dystrophy type 1: clinical manifestations in children and adolescents. ( 29871899 )
2018
32
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2. ( 29533949 )
2018
33
Myotonic dystrophy type 1: reasons to be OPTIMISTIC. ( 29934200 )
2018
34
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients. ( 29291944 )
2018
35
Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy. ( 29420722 )
2018
36
Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy. ( 29892259 )
2018
37
Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1. ( 28078570 )
2017
38
Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. ( 29361394 )
2017
39
Personality traits in patients with myotonic dystrophy type 2. ( 28690389 )
2017
40
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. ( 28910618 )
2017
41
Myotonic dystrophy: candidate small molecule therapeutics. ( 28780071 )
2017
42
Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy. ( 28791262 )
2017
43
The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1. ( 28715597 )
2017
44
Evolving Motivations: Patients' and Caregivers' Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington's Disease Care. ( 28799481 )
2017
45
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy. ( 28698297 )
2017
46
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. ( 28078562 )
2017
47
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study. ( 27919548 )
2017
48
Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1. ( 29296622 )
2017
49
Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNAa89target gene networks. ( 28731161 )
2017
50
Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. ( 28886202 )
2017

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

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 9.62 CELF1 MBNL1 MBNL2 MBNL3
2 RNA splicing GO:0008380 9.56 CELF1 MBNL1 MBNL2 MBNL3
3 actin cytoskeleton reorganization GO:0031532 9.4 CDC42BPA CDC42BPB
4 actomyosin structure organization GO:0031032 9.37 CDC42BPA CDC42BPB
5 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.33 MBNL1 MBNL2 MBNL3
6 developmental process GO:0032502 9.13 MBNL1 MBNL2 MBNL3
7 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
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10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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