DM1
MCID: MYT021
MIFTS: 67

Myotonic Dystrophy 1 (DM1)

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

Aliases & Classifications for Myotonic Dystrophy 1

MalaCards integrated aliases for Myotonic Dystrophy 1:

Name: Myotonic Dystrophy 1 57 72 13 37 70
Myotonic Dystrophy Type 1 12 25 20 58 15
Dystrophia Myotonica 57 12 73 72 6
Steinert Disease 57 12 20 58 72
Congenital Myotonic Dystrophy 12 20 70
Steinert Myotonic Dystrophy 20 58 72
Dm1 57 20 72
Steinert Myotonic Dystrophy Syndrome 29 6
Dystrophia Myotonica 1 57 72
Myotonic Dystrophy 44 70
Steinert's Disease 25 20
Dm 57 72
Myotonic Dystrophy of Steinert 12
Myotonic Dystrophy Congenital 54
Dystrophia Myotonica Type 1 20
Dystrophy, Myotonic, Type 1 39
Dystrophia Myotonica; Dm 57

Characteristics:

Orphanet epidemiological data:

58
steinert myotonic dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-5/10000 (United Kingdom),1-5/10000 (Iceland),1-9/100000 (Serbia),1-9/100000 (Japan),1-9/1000000 (Taiwan, Province of China),1-5/10000 (South Africa),6-9/10000,>1/1000,1-9/1000000 (Serbia),1-9/100000 (Italy),1-5/10000 (Ireland),1-5/10000,1-9/100000,1-5/10000 (Croatia); Age of onset: Adult,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation occurs
prevalence of in 1 in 8,000
normal - 5 to 37 copies of (ctg)n repeat in dmpk
affected, mild - 50-150 repeats
adult onset - 100-1,000 repeats
congenital - over 2,000 repeats
negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)


HPO:

31
myotonic dystrophy 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is high (nearly 100% by age 50 years) when all manifestations of the disease, even those that are subtle, are sought. however, mild cases (e.g., persons with only cataracts) may be missed [moxley & meola 2008].

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Myotonic Dystrophy 1

GARD : 20 Myotonic dystrophy type 1 (MD1), one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, endocrine system, and central nervous system ). MD1 has three forms that somewhat overlap: the mild form, classic form, and congenital form (present at birth). The mild form has the least severe symptoms of the different forms of MD1 and is associated with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing ( myotonia ), cataract, and often, abnormal heart function. Adults with the classic form may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakness at birth ( hypotonia ), often causing complications with breathing and early death. MD1 is inherited in an autosomal dominant manner and is caused by mutations in the DMPK gene. Treatment is based on the signs and symptoms present.

MalaCards based summary : Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy and myotonic dystrophy 2, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy 1 is DMPK (DM1 Protein Kinase). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and eye, and related phenotypes are distal muscle weakness and excessive daytime somnolence

Disease Ontology : 12 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has material basis in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

OMIM® : 57 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with onset at birth can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). (160900) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Dystrophia myotonica 1: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.

Wikipedia : 73 Myotonic dystrophy is a type of muscular dystrophy, a group of long-term genetic disorders that impair... more...

GeneReviews: NBK1165

Related Diseases for Myotonic Dystrophy 1

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1 Myotonic Dystrophy 2

Diseases related to Myotonic Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 670)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 32.2 SIX5 MBNL3 MBNL2 MBNL1 LOC109461477 LOC107075317
2 myotonic dystrophy 2 32.0 YIPF7 SIX5 MBNL3 MBNL2 MBNL1 DMPK
3 branchiootorenal syndrome 2 31.9 SIX5 LOC107075317 DM1-AS
4 branchiootorenal syndrome 31.9 SIX5 LOC107075317 DM1-AS
5 autosomal dominant cerebellar ataxia 31.0 MBNL1 ERCC6 DMPK CNBP CELF1
6 myotonia 30.9 MBNL1 DMPK CNBP CLCN1
7 muscular dystrophy 30.9 MBNL1 DMPK CLCN1 CELF1 ATP2A1
8 fragile x syndrome 30.7 SIX5 MBNL1 ERCC6 DMPK CELF1
9 oculopharyngeal muscular dystrophy 30.6 MBNL1 DMPK CNBP CELF1
10 spinocerebellar ataxia 8 30.6 MBNL2 MBNL1 DMPK CNBP CELF1
11 fuchs' endothelial dystrophy 30.5 MBNL3 MBNL2 MBNL1 DMPK
12 neuromuscular disease 30.5 MBNL2 MBNL1 ERCC6 DMPK CNBP CLCN1
13 huntington disease-like 2 30.3 MBNL2 MBNL1 DMPK CNBP CELF1
14 fragile x-associated tremor/ataxia syndrome 30.3 MBNL2 MBNL1 DMPK CNBP CELF1
15 muscular disease 30.3 MIR675 MBNL1 ERCC6 DMPK CNBP CLCN1
16 cataract 30.2 SIX5 MBNL1 ERCC6 DMPK CNBP
17 dentatorubral-pallidoluysian atrophy 30.1 MBNL1 ERCC6 CNBP
18 myotonic disease 29.6 YIPF7 SIX5 MIR675 MIR33A MBNL3 MBNL2
19 type 1 diabetes mellitus 11.3
20 myotonic cataract 11.1
21 nondystrophic myotonia 11.1
22 congenital-onset steinert myotonic dystrophy 11.1
23 juvenile-onset steinert myotonic dystrophy 11.1
24 late-onset steinert myotonic dystrophy 11.1
25 floppy infant syndrome 11.0
26 infantile hypotonia 11.0
27 myotonia congenita 10.6
28 breast cancer 10.6
29 atrial fibrillation 10.6
30 progressive familial heart block, type ia 10.5
31 alacrima, achalasia, and mental retardation syndrome 10.4
32 autism spectrum disorder 10.4
33 x-linked hereditary ataxia 10.4 MBNL2 MBNL1 DMPK CNBP CELF1
34 left bundle branch hemiblock 10.4
35 thrombocytopenia 10.4
36 spinal and bulbar muscular atrophy, x-linked 1 10.4 MBNL1 ERCC6 DMPK CELF1
37 sensory peripheral neuropathy 10.3
38 atrophic muscular disease 10.3 CLCN1 ATP2A1
39 immature cataract 10.3 DMPK CNBP
40 amyotrophic lateral sclerosis 1 10.3
41 brugada syndrome 10.3
42 spinal muscular atrophy 10.3
43 personality disorder 10.3
44 lateral sclerosis 10.3
45 lens disease 10.3 SIX5 MBNL1 ERCC6 DMPK CNBP CELF1
46 hyperthyroidism 10.3
47 hypogonadotropic hypogonadism 10.3
48 mitochondrial myopathy 10.3
49 muscle tissue disease 10.3 MIR675 MBNL1 ERCC6 DMPK CNBP CLCN1
50 machado-joseph disease 10.3

Graphical network of the top 20 diseases related to Myotonic Dystrophy 1:



Diseases related to Myotonic Dystrophy 1

Symptoms & Phenotypes for Myotonic Dystrophy 1

Human phenotypes related to Myotonic Dystrophy 1:

58 31 (show top 50) (show all 122)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
2 excessive daytime somnolence 58 31 hallmark (90%) Very frequent (99-80%) HP:0001262
3 cardiac conduction abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0031546
4 emg: myotonic discharges 58 31 hallmark (90%) Very frequent (99-80%) HP:0100284
5 posterior subcapsular cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0007787
6 myotonia with warm-up phenomenon 58 31 hallmark (90%) Very frequent (99-80%) HP:0003740
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
9 hypersomnia 58 31 frequent (33%) Frequent (79-30%) HP:0100786
10 atrial fibrillation 58 31 very rare (1%) Frequent (79-30%) HP:0005110
11 fatigable weakness of bulbar muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030192
12 obstructive sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002870
13 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
14 abnormal rapid eye movement sleep 58 31 frequent (33%) Frequent (79-30%) HP:0002494
15 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
16 abnormality of masticatory muscle 58 31 frequent (33%) Frequent (79-30%) HP:0410011
17 prolonged qrs complex 58 31 frequent (33%) Frequent (79-30%) HP:0006677
18 prolonged pr interval 58 31 frequent (33%) Frequent (79-30%) HP:0012248
19 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
20 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
21 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
22 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
23 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
24 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
25 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
26 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
27 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
28 hyperinsulinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000842
29 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
30 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001081
31 respiratory insufficiency due to muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002747
32 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
33 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
34 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
35 decreased fertility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000144
36 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
37 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003124
38 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
39 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
40 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
41 testicular atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000029
42 tented upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010804
43 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
44 intellectual disability, borderline 58 31 occasional (7.5%) Occasional (29-5%) HP:0006889
45 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
46 respiratory failure requiring assisted ventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004887
47 impotence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000802
48 hypergonadotropic hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000815
49 insulin resistance 58 31 occasional (7.5%) Occasional (29-5%) HP:0000855
50 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
dysphagia
recurrent intestinal pseudoobstruction
poor feeding (congenital form)

Abdomen Biliary Tract:
cholelithiasis

Cardiovascular Heart:
heart block
atrial arrhythmias
ekg abnormalities

Muscle Soft Tissue:
weakness
myotonia (delayed muscle relaxation after contraction)
electromyography shows myotonic discharges
wasting, especially temporal, neck, and facial muscles
respiratory distress (congenital form)
more
Skin Nails Hair Hair:
frontal balding (male pattern baldness)

Prenatal Manifestations Movement:
reduced fetal movements (congenital form)

Head And Neck Eyes:
cataract

Genitourinary Internal Genitalia Male:
testicular atrophy
hypogonadism

Neurologic Central Nervous System:
cerebral atrophy
excessive daytime sleepiness
mild cognitive deterioration in adults
speech disability
reduced sleep latency
more
Genitourinary Internal Genitalia Female:
uncoordinated uterine contraction

Neurologic Behavioral Psychiatric Manifestations:
avoidant personality traits
obsessive-compulsive traits
passive-aggressive traits

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (congenital form)

Clinical features from OMIM®:

160900 (Updated 05-Apr-2021)

UMLS symptoms related to Myotonic Dystrophy 1:


excessive daytime somnolence; weakness

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 ATP2A1 CLCN1 DMPK ERCC6 MBNL1 MBNL2

Drugs & Therapeutics for Myotonic Dystrophy 1

Drugs for Myotonic Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, 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
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
5
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 5881
6 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
7 Immunologic Factors Phase 2, Phase 3
8 Adjuvants, Immunologic Phase 2, Phase 3
9 Neurotransmitter Agents Phase 2, Phase 3
10 Central Nervous System Stimulants Phase 2, Phase 3
11 Dopamine Agents Phase 2, Phase 3
12 Dopamine Uptake Inhibitors Phase 2, Phase 3
13 Psychotropic Drugs Phase 3
14 Anticonvulsants Phase 3
15 Antipsychotic Agents Phase 3
16 Hormones Phase 3
17 calcium channel blockers Phase 3
18 Calcium, Dietary Phase 3
19 Sodium Channel Blockers Phase 3
20 Diuretics, Potassium Sparing Phase 3
21 Anti-Arrhythmia Agents Phase 3
22
Calcium Nutraceutical Phase 3 7440-70-2 271
23
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
24 insulin Phase 1, Phase 2
25 Mitogens Phase 1, Phase 2
26 Insulin, Globin Zinc Phase 1, Phase 2
27
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959
28
Caffeine Approved 58-08-2 2519
29
Fibrinolysin Investigational 9004-09-5
30 Hemostatics
31 Lupus Coagulation Inhibitor
32 Anticoagulants
33 Antifibrinolytic Agents
34 Coagulants
35 Plasminogen
36 Plasminogen Activator Inhibitor 1
37 Plasminogen Inactivators
38 Liver Extracts
39 Polymethyl Methacrylate
40 Cola

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
2 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
3 Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
4 Phase 2/3 Study of Efficacy and Tolerability of Methylphenidate in the Treatment of Excessive Daytime Sleepiness in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
5 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
6 A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents With Congenital Myotonic Dystrophy (REACH CDM) Recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
7 A Randomized, Double-blind, Placebo-controlled, Multi-center Study to Investigate the Efficacy and Safety of Mexiletine During 26 Weeks of Treatment in Patients With Myotonic Dystrophy Type 1 and Type 2 [The MIND Study] Not yet recruiting NCT04700046 Phase 3 Mexiletine 167 mg;Placebo
8 An Open-label, Non-Comparative Study to Evaluate the Steady-State Pharmacokinetics, Safety, and Efficacy of Mexiletine in Adolescents and Children With Myotonic Disorders Not yet recruiting NCT04624750 Phase 3 Mexiletine
9 A Placebo Controlled, Randomized, Double-Blind Phase II Clinical Trial to Evaluate Tolerability, Safety and Efficacy Endpoints After Administration of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) for 24 Weeks in Adults With Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
10 A Phase 1/2a Blinded, Placebo-Controlled Study to Assess the Safety, Tolerability, and Dose-range Finding of Multiple Ascending Doses of ISIS 598769 Administered Subcutaneously to Adult Patients With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
11 Effects of SomatoKine (Iplex) (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
12 A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1) Completed NCT01406873 Phase 2 Mexiletine;Placebo
13 A Single-Blind, Phase 2 Study To Evaluate The Safety And Efficacy Of Tideglusib 400mg Or 1000mg For The Treatment Of Adolescent And Adult Congenital And Juvenile-Onset Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
14 Double-Blind, Placebo-Controlled, Dose-Range-Finding, Crossover Trial of Single Day Administration of ERX-963 in Adults With Myotonic Dystrophy Type 1 Completed NCT03959189 Phase 1 ERX-963;Placebo
15 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
16 Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1 Unknown status NCT02880735
17 Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials Unknown status NCT02831504
18 Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy Unknown status NCT02269865
19 Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica Unknown status NCT02708784
20 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
21 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Unknown status NCT03211923
22 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
23 Effects of a Multiple Component Training Program on Muscles, Maximal Muscle Strength, Endurance and Functional Performance in Adults With Myotonic Dystrophy Type 1: A Pilot Study Completed NCT04001920
24 Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1 Completed NCT04018820
25 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Completed NCT03603171
26 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
27 A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1 Completed NCT02308657
28 Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration Completed NCT02118779
29 Cardiac and Respiratory Prognostic Factors in Patients With Myotonic Dystrophy Type 1 Completed NCT01136330
30 Development of a New Scale of Quality of Life, Specific of Neuro Muscular Diseases and More Specifically of Steinert Disease, by the Rasch Model Methods. Completed NCT02895763
31 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Completed NCT02375087
32 Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
33 Incidence and Predictors of Venous Thromboembolism in Myotonic Dystrophy Completed NCT03141749
34 Prospective Randomized Controlled Single Blind Study of Efficacy and Tolerance of AVAPS Mode Compared to Bilevel Pressure Ventilation un Adult Patients With Myotonic Dystrophy Completed NCT01530841
35 Myotonic Dystrophy:Muscle Wasting and Altered Metabolism Completed NCT00004769
36 A Registry of Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
37 Assessing the Effect of the MYODM Food Supplement on Quality of Life, Fatigue and Hypersomnia in Patients With Myotonic Dystrophy Type 1 Recruiting NCT04634682
38 The Electrophysiological Study Guided ICD Strategy in Prevention of Arrhythmic Cardiac Death in Myotonic Dystrophy Type 1 Patients With Conduction System Disease (ACADEMY 1 Study) Recruiting NCT03784586
39 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460
40 Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1 Recruiting NCT04712422
41 Assessing Clinical Endpoint and Biomarkers in Myotonic Dystrophy Type-1 and Type-2 Recruiting NCT03867435
42 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
43 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
44 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
45 The UK National Registry for Myotonic Dystrophy Recruiting NCT04003363
46 Myotonic Dystrophy Family Registry Recruiting NCT02398786
47 An Observational Study to Describe the Long-term Safety and Effectiveness of Namuscla in the Symptomatic Management of Myotonia in Adult Patients With Non-dystrophic Myotonic Disorders Recruiting NCT04616807 Mexiletine
48 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
49 Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients Active, not recruiting NCT04187482
50 Comparison of Two NGS Phasing Techniques of Parental Haplotypes for NIPD of Triplet Expansion Diseases Active, not recruiting NCT04698551

Search NIH Clinical Center for Myotonic Dystrophy 1

Cochrane evidence based reviews: myotonic dystrophy

Genetic Tests for Myotonic Dystrophy 1

Genetic tests related to Myotonic Dystrophy 1:

# Genetic test Affiliating Genes
1 Steinert Myotonic Dystrophy Syndrome 29 DMPK

Anatomical Context for Myotonic Dystrophy 1

MalaCards organs/tissues related to Myotonic Dystrophy 1:

40
Skeletal Muscle, Heart, Eye, Brain, Thyroid, Colon, Tongue

Publications for Myotonic Dystrophy 1

Articles related to Myotonic Dystrophy 1:

(show top 50) (show all 536)
# Title Authors PMID Year
1
Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature. 54 57 25
11807903 2002
2
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. 57 6
8595416 1995
3
An unstable triplet repeat in a gene related to myotonic muscular dystrophy. 57 6
1546326 1992
4
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. 57 6
1346923 1992
5
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. 57 25
20439846 2010
6
Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. 25 57
16636244 2006
7
Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. 25 57
15883838 2005
8
Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1. 25 57
15079005 2004
9
A muscleblind knockout model for myotonic dystrophy. 57 25
14671308 2003
10
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. 57 25
12150905 2002
11
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. 25 57
11528389 2001
12
Frequency and stability of the myotonic dystrophy type 1 premutation. 25 57
11171897 2001
13
Personality patterns in patients with myotonic dystrophy. 25 57
9605719 1998
14
Patients with primary cataract as a genetic pool of DMPK protomutation. 57 61
17146587 2007
15
Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. 57 61
16301494 2005
16
Six5 is required for spermatogenic cell survival and spermiogenesis. 61 57
15163633 2004
17
[Spreading of the gene for myotonic dystrophy in Saguenay (Quebec)]. 61 57
3411303 1988
18
Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations. 6
32203199 2020
19
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. 6
29967337 2018
20
RNA phase transitions in repeat expansion disorders. 57
28562589 2017
21
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. 57
28257691 2017
22
Myotonic dystrophies type 1 and 2: anesthetic care. 61 25
23384336 2013
23
Targeting nuclear RNA for in vivo correction of myotonic dystrophy. 57
22859208 2012
24
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. 57
22140091 2012
25
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues. 57
21872659 2012
26
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. 57
21364698 2011
27
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. 57
21623381 2011
28
Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease. 57
20644219 2010
29
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. 57
20603324 2010
30
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. 57
20051426 2010
31
Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1. 57
20018643 2009
32
Neuroimaging in myotonic dystrophy type 1. 57
19949042 2009
33
Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy. 57
19667189 2009
34
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. 57
19608921 2009
35
Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. 57
19514047 2009
36
Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. 57
19223393 2009
37
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. 57
18611984 2008
38
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. 57
18565861 2008
39
Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1. 57
18299519 2008
40
The hypocretin neurotransmission system in myotonic dystrophy type 1. 57
18195268 2008
41
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression. 57
18084293 2008
42
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. 57
18008009 2007
43
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. 57
17728322 2007
44
DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans. 57
17877752 2007
45
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. 57
17823658 2007
46
Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature. 57
17663477 2007
47
Cardiovascular manifestations of myotonic dystrophy-1. 61 25
17575483 2007
48
Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. 57
16927100 2006
49
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. 57
16878132 2006
50
Reversal of fortune. 57
16941004 2006

Variations for Myotonic Dystrophy 1

ClinVar genetic disease variations for Myotonic Dystrophy 1:

6 (show top 50) (show all 211)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DM1-AS , DMPK , LOC109461477 , LOC107075317 NM_004409.4(DMPK):c.*224CTG[(35_49)] Microsatellite other 65629 GRCh37: 19:46273520-46273522
GRCh38: 19:45770262-45770264
2 DM1-AS , DMPK , LOC109461477 , LOC107075317 NM_004409.4(DMPK):c.*224CTG[1502] Microsatellite Pathogenic 187925 GRCh37: 19:46273463-46273463
GRCh38: 19:45770205-45770205
3 DM1-AS , DMPK , LOC109461477 , LOC107075317 NM_004409.4(DMPK):c.*224CTG[1681] Microsatellite Pathogenic 187929 GRCh37: 19:46273463-46273463
GRCh38: 19:45770205-45770205
4 DMPK NM_001081563.2(DMPK):c.*224_*283CTG[30]CCG[2]CTG[2]CCG[1]CTG[105] Microsatellite Pathogenic 254213 GRCh37:
GRCh38:
5 DMPK NM_001081563.2(DMPK):c.*224_*283CTG[28]CCG[2]CTG[2]CCG[1]CTG[88] Microsatellite Pathogenic 254214 GRCh37:
GRCh38:
6 DM1-AS , DMPK , LOC109461477 , LOC107075317 NM_004409.4:c.*224_*283CTG[(180_240)]CCGCTG[(53_67)]CTG[(53_67)] Microsatellite Pathogenic 523754 GRCh37:
GRCh38: 19:45770205-45770264
7 DM1-AS , DMPK , LOC109461477 , LOC107075317 NM_004409.4:c.*224_*283CTG[(200_300)]CCG[1]CTG[(41_59)] Microsatellite Pathogenic 523755 GRCh37:
GRCh38: 19:45770205-45770264
8 DM1-AS , DMPK , LOC109461477 , LOC107075317 NC_000019.10:g.45770205_45770264CAG[(15_23)]CAGCAGCGG[(10_14)]CAG[(260_320)] Microsatellite Pathogenic 523756 GRCh37:
GRCh38: 19:45770205-45770264
9 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[597] Microsatellite Pathogenic 523757 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
10 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[383] Microsatellite Pathogenic 523758 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
11 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[105] Microsatellite Pathogenic 523759 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
12 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[288] Microsatellite Pathogenic 523760 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
13 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[90] Microsatellite Pathogenic 523761 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
14 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[496] Microsatellite Pathogenic 523764 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
15 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[110] Microsatellite Pathogenic 623360 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
16 DM1-AS , DMPK , LOC109461477 , LOC107075317 NM_001081560.3(DMPK):c.*224CTG[(51_?)] Microsatellite Pathogenic 5049 GRCh37: 19:46273463-46273465
GRCh38: 19:45770205-45770207
17 DMPK NM_004409.4:c.*224_*283CTG[(192_602)]CCG[1]CTG[8]CCG[2]CTG[2]CCG[1]CTG[4]CCG[1]CTG[30] Microsatellite Pathogenic 805866 GRCh37:
GRCh38:
18 DMPK NM_004409.4:c.*224_*283CTG[329]NNN[(?)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18] Microsatellite Pathogenic 805867 GRCh37:
GRCh38:
19 DMPK NM_004409.4:c.*224_*283CTG[(510_860)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[2]CCG[3]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18] Microsatellite Pathogenic 805868 GRCh37:
GRCh38:
20 DMPK NM_004409.4:c.*224_*283CTG[(271_852)]CCG[1]CTG[17]CCG[1]CTG[29] Microsatellite Pathogenic 805869 GRCh37:
GRCh38:
21 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[38] Microsatellite Pathogenic 810786 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
22 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[180] Microsatellite Pathogenic 810787 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
23 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[117] Microsatellite Pathogenic 810788 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
24 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[41] Microsatellite Pathogenic 810790 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
25 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[39] Microsatellite Pathogenic 810791 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
26 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[44] Microsatellite Pathogenic 810792 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
27 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[35] Microsatellite Pathogenic 810793 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
28 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[31] Microsatellite Pathogenic 810795 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
29 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[47] Microsatellite Pathogenic 810796 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
30 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[34] Microsatellite Pathogenic 810799 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
31 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[40] Microsatellite Pathogenic 810800 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
32 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[43] Microsatellite Pathogenic 810801 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
33 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[51] Microsatellite Pathogenic 810802 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
34 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[33] Microsatellite Pathogenic 810812 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
35 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[49] Microsatellite Pathogenic 810813 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
36 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[73] Microsatellite Pathogenic 810814 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
37 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[130] Microsatellite Pathogenic 810815 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
38 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[57] Microsatellite Pathogenic 810816 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
39 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[61] Microsatellite Pathogenic 810817 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
40 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[45] Microsatellite Pathogenic 810818 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
41 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[37] Microsatellite Pathogenic 810819 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
42 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[42] Microsatellite Pathogenic 810820 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
43 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[58] Microsatellite Pathogenic 810821 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
44 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[36] Microsatellite Pathogenic 810822 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
45 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[55] Microsatellite Pathogenic 810806 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
46 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[100] Microsatellite Pathogenic 810807 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
47 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[86] Microsatellite Pathogenic 810808 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
48 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[280] Microsatellite Pathogenic 810825 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
49 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[230] Microsatellite Pathogenic 810826 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205
50 DM1-AS , DMPK , LOC107075317 and overlap with 1 gene(s) NM_004409.5(DMPK):c.*224_*226CTG[330] Microsatellite Pathogenic 810828 GRCh37: 19:46273462-46273463
GRCh38: 19:45770204-45770205

Expression for Myotonic Dystrophy 1

LifeMap Discovery
Genes differentially expressed in tissues of Myotonic Dystrophy 1 patients vs. healthy controls: 35 (show all 15)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MAFF MAF bZIP transcription factor F Skeletal Muscle - 4.36 0.001
2 COL21A1 collagen type XXI alpha 1 chain Skeletal Muscle + 3.86 0.000
3 COL4A3 collagen type IV alpha 3 chain Skeletal Muscle + 3.81 0.000
4 RARRES1 retinoic acid receptor responder 1 Skeletal Muscle - 3.53 0.003
5 NNMT nicotinamide N-methyltransferase Skeletal Muscle - 3.50 0.000
6 PRPF38B pre-mRNA processing factor 38B Skeletal Muscle + 3.48 0.000
7 NEB nebulin Skeletal Muscle + 3.42 0.000
8 RIF1 replication timing regulatory factor 1 Skeletal Muscle + 3.33 0.000
9 SPX spexin hormone Skeletal Muscle + 3.31 0.001
10 SCD5 stearoyl-CoA desaturase 5 Skeletal Muscle + 3.20 0.000
11 AQP4 aquaporin 4 Skeletal Muscle + 3.19 0.001
12 CHI3L1 chitinase 3 like 1 Skeletal Muscle - 3.09 0.009
13 SLC39A14 solute carrier family 39 member 14 Skeletal Muscle - 3.07 0.003
14 GOLGA8A golgin A8 family member A Skeletal Muscle + 3.03 0.000
15 COL3A1 collagen type III alpha 1 chain Skeletal Muscle + 3.02 0.001
Search GEO for disease gene expression data for Myotonic Dystrophy 1.

Pathways for Myotonic Dystrophy 1

GO Terms for Myotonic Dystrophy 1

Biological processes related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.62 MBNL3 MBNL2 MBNL1 CELF1
2 RNA splicing GO:0008380 9.56 MBNL3 MBNL2 MBNL1 CELF1
3 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.26 MBNL3 MBNL2 MBNL1 CELF1
4 positive regulation of lipopolysaccharide-mediated signaling pathway GO:0031666 9.16 PRKCA LY86
5 regulation of RNA splicing GO:0043484 8.92 MBNL3 MBNL2 MBNL1 CELF1

Sources for Myotonic Dystrophy 1

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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