DM1
MCID: MYT021
MIFTS: 63

Myotonic Dystrophy 1 (DM1) malady

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

Aliases & Classifications for Myotonic Dystrophy 1

Aliases & Descriptions for Myotonic Dystrophy 1:

Name: Myotonic Dystrophy 1 54 66 13 38 69
Myotonic Dystrophy Type 1 12 23 50 24 56 14
Steinert Myotonic Dystrophy 50 56 66 29
Steinert Disease 12 50 56 66
Dm1 50 24 56 66
Congenital Myotonic Dystrophy 12 50 69
Steinert's Disease 23 50 24
Dystrophia Myotonica 12 66
Myotonic Dystrophy 42 69
Myotonic Muscular Dystrophy Type 1 24
Myotonic Dystrophy of Steinert 12
Myotonic Dystrophy Congenital 52
Dystrophia Myotonica Type 1 50
Dystrophia Myotonica 1 66
Md1 56
Dm 66

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
myotonic dystrophy 1:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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:



External Ids:

OMIM 54 160900
Disease Ontology 12 DOID:11722
ICD10 33 G71.11
ICD9CM 35 359.21
MeSH 42 D009223
NCIt 47 C84914
Orphanet 56 ORPHA273
MESH via Orphanet 43 C538008
UMLS via Orphanet 70 C2931688
ICD10 via Orphanet 34 G71.1
UMLS 69 C0027126

Summaries for Myotonic Dystrophy 1

OMIM : 54 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts,... (160900) more...

MalaCards based summary : Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy 2 and dermatomyositis, and has symptoms including respiratory distress, hydrocephalus and muscular hypotonia. An important gene associated with Myotonic Dystrophy 1 is DMPK (Dystrophia Myotonica Protein Kinase), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Calcium signaling pathway. The drugs Trastuzumab and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and eye, and related phenotype is muscle.

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 physical basis in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

NIH Rare Diseases : 50 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. last updated: 5/19/2017

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK1165

Related Diseases for Myotonic Dystrophy 1

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



Diseases related to Myotonic Dystrophy 1

Symptoms & Phenotypes for Myotonic Dystrophy 1

Symptoms by clinical synopsis from OMIM:

160900

Clinical features from OMIM:

160900

Human phenotypes related to Myotonic Dystrophy 1:

56 32 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 56 32 Frequent (79-30%) HP:0002098
2 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
3 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
4 facial palsy 56 32 Frequent (79-30%) HP:0010628
5 cataract 56 32 Frequent (79-30%) HP:0000518
6 hypertonia 56 32 Very frequent (99-80%) HP:0001276
7 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
8 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
9 myotonia 56 32 Very frequent (99-80%) HP:0002486
10 skeletal muscle atrophy 56 32 Very frequent (99-80%) HP:0003202
11 strabismus 56 32 Occasional (29-5%) HP:0000486
12 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
13 mask-like facies 56 32 Very frequent (99-80%) HP:0000298
14 testicular atrophy 56 32 Frequent (79-30%) HP:0000029
15 abnormality of the endocrine system 56 32 Frequent (79-30%) HP:0000818
16 hip dislocation 56 32 Occasional (29-5%) HP:0002827
17 hernia of the abdominal wall 56 32 Occasional (29-5%) HP:0004299
18 intellectual disability, progressive 56 32 Frequent (79-30%) HP:0006887
19 abnormality of the upper urinary tract 56 32 Occasional (29-5%) HP:0010935
20 abnormal hair quantity 56 32 Frequent (79-30%) HP:0011362
21 first degree atrioventricular block 56 32 Very frequent (99-80%) HP:0011705
22 non-midline cleft lip 56 32 Occasional (29-5%) HP:0100335
23 muscle weakness 32 HP:0001324
24 dysphagia 32 HP:0002015
25 feeding difficulties in infancy 32 HP:0008872
26 malformation of the heart and great vessels 56 Frequent (79-30%)
27 cholelithiasis 32 HP:0001081
28 hypogonadism 32 HP:0000135
29 polyhydramnios 32 HP:0001561
30 decreased fetal movement 32 HP:0001558
31 abnormality of cardiovascular system morphology 32 HP:0030680
32 cerebral atrophy 32 HP:0002059
33 atrial fibrillation 32 HP:0005110
34 obsessive-compulsive trait 32 HP:0008770
35 frontal balding 32 HP:0002292
36 excessive daytime sleepiness 32 HP:0002189
37 facial diplegia 32 HP:0001349
38 atrial flutter 32 HP:0004749

UMLS symptoms related to Myotonic Dystrophy 1:


excessive daytime somnolence, weakness

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ATP2A1 CLCN1 DHCR7 DMPK MBNL1 PRKCA

Drugs & Therapeutics for Myotonic Dystrophy 1

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

(show top 50) (show all 140)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trastuzumab Approved, Investigational Phase 3,Phase 2,Phase 1 180288-69-1 9903
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
5
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
6
Pertuzumab Approved Phase 3,Phase 1,Phase 2 145040-37-5, 380610-27-5 2540
7
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
8
Tamoxifen Approved Phase 3,Phase 2 10540-29-1 2733526
9
Fesoterodine Approved Phase 3 286930-02-7, 286930-03-8 6918558
10
Gemcitabine Approved Phase 3,Phase 1,Phase 2 95058-81-4 60750
11
Vinorelbine Approved, Investigational Phase 3,Phase 1,Phase 2 71486-22-1 60780 44424639
12
Apomorphine Approved, Investigational Phase 3 41372-20-7, 58-00-4 6005
13
Levodopa Approved Phase 3 59-92-7 6047
14
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
15
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
16
Docetaxel Approved May 1996, Investigational Phase 3,Phase 2,Phase 1 114977-28-5 148124 9877265
17
Lapatinib Approved March 2007, Investigational Phase 3,Phase 1,Phase 2 231277-92-2, 388082-78-8 208908 9941095
18 Ado-trastuzumab emtansine Phase 3,Phase 2,Phase 1
19 Hormones Phase 3,Phase 1,Phase 2
20 Mitogens Phase 3,Phase 2,Phase 1
21 Anticonvulsants Phase 3
22 calcium channel blockers Phase 3
23 Calcium, Dietary Phase 3
24 Diuretics, Potassium Sparing Phase 3,Phase 2
25 Excitatory Amino Acid Antagonists Phase 3,Phase 2
26 Excitatory Amino Acids Phase 3,Phase 2
27 Neurotransmitter Agents Phase 3,Phase 2
28 Sodium Channel Blockers Phase 3,Phase 2
29 Central Nervous System Stimulants Phase 2, Phase 3
30 Dopamine Agents Phase 2, Phase 3
31 Dopamine Uptake Inhibitors Phase 2, Phase 3
32 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
33 Adjuvants, Immunologic Phase 2, Phase 3
34 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
35 Antimitotic Agents Phase 3,Phase 2,Phase 1
36 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
37 Maytansine Phase 3,Phase 2,Phase 1
38 taxane Phase 3,Phase 2,Phase 1
39 Antimetabolites Phase 3,Phase 2,Phase 1
40 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
41 Protein Kinase Inhibitors Phase 3,Phase 1,Phase 2
42 Aromatase Inhibitors Phase 3,Phase 2
43 Prolactin Release-Inhibiting Factors Phase 3,Phase 2
44 Cholinergic Agents Phase 3
45 Cholinergic Antagonists Phase 3
46 Muscarinic Antagonists Phase 3
47 Acyclovir Phase 3
48 Anti-Infective Agents Phase 3,Phase 1,Phase 2
49 Antiviral Agents Phase 3,Phase 1,Phase 2
50 Autonomic Agents Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 129)
id Name Status NCT ID Phase
1 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
2 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3
3 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3
4 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3
5 A Study of Trastuzumab Emtansine (T-DM1) Plus Pertuzumab/Pertuzumab Placebo Versus Trastuzumab [Herceptin] Plus a Taxane in Patients With Metastatic Breast Cancer (MARIANNE) Completed NCT01120184 Phase 3
6 A Study of Trastuzumab Emtansine Versus Capecitabine + Lapatinib in Participants With HER2-positive Locally Advanced or Metastatic Breast Cancer Completed NCT00829166 Phase 3
7 A Study of Trastuzumab Emtansine in Comparison With Treatment of Physician's Choice in Participants With HER2-positive Breast Cancer Who Have Received at Least Two Prior Regimens of HER2-directed Therapy Completed NCT01419197 Phase 3
8 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
9 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3
10 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
11 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3
12 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
13 A Study of Trastuzumab Emtansine in Participants With Human Epidermal Growth Factor Receptor 2 (HER2) Positive Breast Cancer Who Have Received Prior Anti-HER2 And Chemotherapy-based Treatment Recruiting NCT01702571 Phase 3
14 A Phase III Trial of Pertuzumab Retreatment in Previously Pertuzumab Treated Her2-Positive Advanced Breast Cancer Recruiting NCT02514681 Phase 3
15 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
16 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
17 A Study Evaluating Trastuzumab Emtansine Plus Pertuzumab Compared With Chemotherapy Plus Trastuzumab and Pertuzumab for Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Breast Cancer Active, not recruiting NCT02131064 Phase 3
18 Efficacy and Safety of Trastuzumab Emtansine in Chinese Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer Not yet recruiting NCT03084939 Phase 3
19 A Study of Trastuzumab Emtansine Versus Taxane in Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Advanced Gastric Cancer Terminated NCT01641939 Phase 2, Phase 3
20 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
21 A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2
22 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2
23 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
24 A Study of Trastuzumab Emtansine (T-DM1) in Combination With Docetaxel, and Potentially Pertuzumab, in Participants With Advanced Breast Cancer Completed NCT00934856 Phase 1, Phase 2
25 Corrected QT Interval Effects of Trastuzumab Emtansine (T-DM1) in Patients With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer and the Safety and Tolerability of Combined T-DM1 and Pertuzumab in Patie Completed NCT00943670 Phase 2
26 A Study of Trastuzumab-Mcc-DM1 Administered Intravenously to Patients With HER2-Positive Metastatic Breast Cancer Completed NCT00679211 Phase 2
27 A Study of Trastuzumab Emtansine (Trastuzumab-MCC-DM1) Administered Intravenously to Patients With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Metastatic Breast Cancer Completed NCT00509769 Phase 2
28 A Study of Trastuzumab Emtansine (Trastuzumab-MCC-DM1, T-DM1) in Combination With Pertuzumab Administered to Patients With Human Epidermal Growth Factor Receptor-2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer Who Have Previously Received T Completed NCT00875979 Phase 1, Phase 2
29 A Study of the Efficacy and Safety of Trastuzumab Emtansine (Trastuzumab-MCC-DM1) vs. Trastuzumab (Herceptin®) and Docetaxel (Taxotere®) in Patients With Metastatic HER2-positive Breast Cancer Who Have Not Received Prior Chemotherapy for Metastatic Diseas Completed NCT00679341 Phase 2
30 A Study of Trastuzumab Emtansine (T-DM1) Sequentially With Anthracycline-based Chemotherapy, as Adjuvant or Neoadjuvant Therapy for Patients With Early Stage Herceptin (HER)2-positive Breast Cancer Completed NCT01196052 Phase 2
31 MLN2704 in Subjects With Metastatic Androgen-Independent Prostate Cancer Completed NCT00070837 Phase 1, Phase 2
32 A Study of Trastuzumab Emtansine, Paclitaxel, and Pertuzumab in Patients With HER2-Positive, Locally Advanced or Metastatic Breast Cancer Completed NCT00951665 Phase 1, Phase 2
33 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Recruiting NCT02251457 Phase 2
34 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Recruiting NCT02858908 Phase 2
35 A Dose-Escalation Study Evaluating the Combination of Trastuzumab Emtansine (T-DM1) With Neratinib in Women With Metastatic HER2-Positive Breast Cancer Recruiting NCT02236000 Phase 1, Phase 2
36 T-DM1 vs Paclitaxel/Trastuzumab for Breast (ATEMPT Trial) Recruiting NCT01853748 Phase 2
37 T-DM1+Pertuzumab in Pre-OP Early-Stage HER2+ BRCA Recruiting NCT02326974 Phase 2
38 HER2 Imaging Study to Identify HER2 Positive Metastatic Breast Cancer Patient Unlikely to Benefit From T-DM1 Recruiting NCT01565200 Phase 2
39 An Open-Label, Phase Ib/II Clinical Trial Of Cdk 4/6 Inhibitor, Ribociclib (Lee011), In Combination With Trastuzumab Or T-Dm1 For Advanced/Metastatic Her2-Positive Breast Cancer. Recruiting NCT02657343 Phase 1, Phase 2
40 Vinorelbine With Trastuzumab Emtansine in Pre-Treated HER2-Positive Metastatic Breast Cancer Recruiting NCT02658084 Phase 1, Phase 2
41 Trastuzumab Emtansine in Treating Older Patients With Human Epidermal Growth Factor Receptor 2-Positive Stage I-III Breast Cancer Recruiting NCT02414646 Phase 2
42 Deciphering Antitumour Response and Resistance With INtratumour Heterogeneity Recruiting NCT02314481 Phase 2
43 A Study to Evaluate the Efficacy and Safety of Trastuzumab Emtansine in Combination With Atezolizumab or Atezolizumab-Placebo in Participants With Human Epidermal Growth Factor-2 (HER2) Positive Locally Advanced or Metastatic Breast Cancer Who Have Receiv Recruiting NCT02924883 Phase 2
44 TDM1 With Abraxane and Lapatinib for Metastatic HER2 Positive Breast Cancer Recruiting NCT02073916 Phase 1, Phase 2
45 Transplantation of Autologous Stem Cells for the Treatment of Type 1 Diabetes Mellitus Recruiting NCT02644759 Phase 1, Phase 2
46 I-SPY 2 TRIAL: Neoadjuvant and Personalized Adaptive Novel Agents to Treat Breast Cancer Recruiting NCT01042379 Phase 2
47 A Safety Extension Study of Trastuzumab Emtansine in Participants Previously Treated With Trastuzumab Emtansine Alone or in Combination With Other Anti-Cancer Therapy in One of the Parent Studies Recruiting NCT00781612 Phase 2
48 NEOADjuvant Aromatase Inhibitor and Pertuzumab/Trastuzumab for Women With Breast Cancer Recruiting NCT02689921 Phase 2
49 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2
50 A Prospective, Randomized Multicenter, Open-label Comparison of Preoperative Trastuzumab Emtansine (T-DM1) With or Without Standard Endocrine Therapy vs. Trastuzumab With Standard Endocrine Therapy Given for Twelve Weeks in Patients With Operable HER2+/HR Active, not recruiting NCT01745965 Phase 2

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:

id Genetic test Affiliating Genes
1 Steinert Myotonic Dystrophy Syndrome 29
2 Myotonic Dystrophy Type 1 24 DMPK

Anatomical Context for Myotonic Dystrophy 1

MalaCards organs/tissues related to Myotonic Dystrophy 1:

39
Skeletal Muscle, Heart, Eye, Smooth Muscle, Brain

Publications for Myotonic Dystrophy 1

Articles related to Myotonic Dystrophy 1:

(show all 21)
id Title Authors Year
1
Renal dysfunction can be a common complication in patients with myotonic dystrophy 1. ( 27538647 )
2016
2
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells. ( 27501221 )
2016
3
Computational Investigation of RNA CUG Repeats Responsible for Myotonic Dystrophy 1. ( 26500461 )
2015
4
Recurrent takotsubo syndrome in a patient with myotonic dystrophy 1. ( 25101654 )
2014
5
Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1. ( 23890854 )
2013
6
Beneficial effect of digitoxin for heart failure from noncompaction in myotonic dystrophy 1. ( 22475848 )
2012
7
A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryo transfer. ( 23011730 )
2012
8
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. ( 22131273 )
2011
9
Implantable loop recorders in myotonic dystrophy 1. ( 21880381 )
2011
10
Gastroparesis in myotonic dystrophy 1. ( 21125412 )
2011
11
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. ( 20479119 )
2010
12
Pneumosinus dilatans and hypercalcification of the falx and ligamentum petroclinoideum in myotonic dystrophy 1. ( 20220451 )
2010
13
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. ( 20220122 )
2010
14
New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction. ( 19715468 )
2009
15
Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. ( 17549748 )
2008
16
Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. ( 18583094 )
2008
17
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. ( 17936705 )
2007
18
Asymptomatic, progressive electrocardiographic abnormalities over twelve years in myotonic dystrophy 1. ( 17982974 )
2007
19
Altered expression of CUG binding protein 1 mRNA in myotonic dystrophy 1: possible RNA-RNA interaction. ( 15099703 )
2004
20
Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. ( 11527424 )
2001
21
Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration. ( 10748037 )
2000

Variations for Myotonic Dystrophy 1

ClinVar genetic disease variations for Myotonic Dystrophy 1:

6 (show top 50) (show all 141)
id Gene Variation Type Significance SNP ID Assembly Location
1 DMPK NM_001081560.2(DMPK): c.*224_*226CTG(51_?) NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273465
2 DMPK NM_001081563.1: c.*224_226CTG(50-?) undetermined variant Pathogenic
3 DMPK NM_004409.4(DMPK): c.*224_*226[102] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
4 DMPK NM_004409.4(DMPK): c.*224_*226[103] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
5 DMPK NM_004409.4(DMPK): c.*224_*226[107] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
6 DMPK NM_004409.4(DMPK): c.*224_*226[1080] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
7 DMPK NM_004409.4(DMPK): c.*224_*226[1140] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
8 DMPK NM_004409.4(DMPK): c.*224_*226[1142] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
9 DMPK NM_004409.4(DMPK): c.*224_*226[1189] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
10 DMPK NM_004409.4(DMPK): c.*224_*226[122] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
11 DMPK NM_004409.4(DMPK): c.*224_*226[1236] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
12 DMPK NM_004409.4(DMPK): c.*224_*226[123] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
13 DMPK NM_004409.4(DMPK): c.*224_*226[124] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
14 DMPK NM_004409.4(DMPK): c.*224_*226[127] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
15 DMPK NM_004409.4(DMPK): c.*224_*226[131] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
16 DMPK NM_004409.4(DMPK): c.*224_*226[132] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
17 DMPK NM_004409.4(DMPK): c.*224_*226[134] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
18 DMPK NM_004409.4(DMPK): c.*224_*226[135] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
19 DMPK NM_004409.4(DMPK): c.*224_*226[142] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
20 DMPK NM_004409.4(DMPK): c.*224_*226[146] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
21 DMPK NM_004409.4(DMPK): c.*224_*226[1502] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
22 DMPK NM_004409.4(DMPK): c.*224_*226[158] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
23 DMPK NM_004409.4(DMPK): c.*224_*226[160] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
24 DMPK NM_004409.4(DMPK): c.*224_*226[1681] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
25 DMPK NM_004409.4(DMPK): c.*224_*226[168] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
26 DMPK NM_004409.4(DMPK): c.*224_*226[169] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
27 DMPK NM_004409.4(DMPK): c.*224_*226[175] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
28 DMPK NM_004409.4(DMPK): c.*224_*226[181] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
29 DMPK NM_004409.4(DMPK): c.*224_*226[182] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
30 DMPK NM_004409.4(DMPK): c.*224_*226[194] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
31 DMPK NM_004409.4(DMPK): c.*224_*226[195] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
32 DMPK NM_004409.4(DMPK): c.*224_*226[197] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
33 DMPK NM_004409.4(DMPK): c.*224_*226[214] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
34 DMPK NM_004409.4(DMPK): c.*224_*226[216] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
35 DMPK NM_004409.4(DMPK): c.*224_*226[225] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
36 DMPK NM_004409.4(DMPK): c.*224_*226[229] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
37 DMPK NM_004409.4(DMPK): c.*224_*226[232] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
38 DMPK NM_004409.4(DMPK): c.*224_*226[235] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
39 DMPK NM_004409.4(DMPK): c.*224_*226[236] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
40 DMPK NM_004409.4(DMPK): c.*224_*226[238] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
41 DMPK NM_004409.4(DMPK): c.*224_*226[241] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
42 DMPK NM_004409.4(DMPK): c.*224_*226[255] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
43 DMPK NM_004409.4(DMPK): c.*224_*226[256] NT expansion Pathogenic rs786200945 GRCh37 Chromosome 19, 46273520: 46273522
44 DMPK NM_004409.4(DMPK): c.*224_*226[260] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
45 DMPK NM_004409.4(DMPK): c.*224_*226[261] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
46 DMPK NM_004409.4(DMPK): c.*224_*226[264] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
47 DMPK NM_004409.4(DMPK): c.*224_*226[265] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
48 DMPK NM_004409.4(DMPK): c.*224_*226[271] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
49 DMPK NM_004409.4(DMPK): c.*224_*226[281] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264
50 DMPK NM_004409.4(DMPK): c.*224_*226[303] NT expansion Pathogenic rs786200945 GRCh38 Chromosome 19, 45770262: 45770264

Expression for Myotonic Dystrophy 1

LifeMap Discovery
Genes differentially expressed in tissues of Myotonic Dystrophy 1 patients vs. healthy controls: 35 (show all 15)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F Skeletal Muscle - 4.36 0.001
2 COL21A1 collagen, type XXI, alpha 1 Skeletal Muscle + 3.86 0.000
3 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Skeletal Muscle + 3.81 0.000
4 RARRES1 retinoic acid receptor responder (tazarotene induced) 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 (cartilage glycoprotein-39) Skeletal Muscle - 3.09 0.009
13 SLC39A14 solute carrier family 39 (zinc transporter), 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 Skeletal Muscle + 3.02 0.001
Search GEO for disease gene expression data for Myotonic Dystrophy 1.

Pathways for Myotonic Dystrophy 1

Pathways related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.94 ATP2A1 PRKCA PRKCB
2
Show member pathways
11.6 ATP2A1 PRKCA PRKCB
3 10.94 PRKCA PRKCB
4 10.88 PRKCA PRKCB
5 10.8 PRKCA PRKCB
6 10.78 ATP2A1 PRKCA PRKCB
7 10.42 PRKCA PRKCB

GO Terms for Myotonic Dystrophy 1

Cellular components related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum membrane GO:0033017 8.96 ATP2A1 DMPK
2 nuclear outer membrane GO:0005640 8.62 DHCR7 DMPK

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

id Name GO ID Score Top Affiliating Genes
1 cholesterol biosynthetic process GO:0006695 9.26 CNBP DHCR7
2 regulation of RNA splicing GO:0043484 9.16 CELF1 MBNL1
3 peptidyl-serine phosphorylation GO:0018105 9.13 DMPK PRKCA PRKCB
4 histone H3-T6 phosphorylation GO:0035408 8.62 PRKCA PRKCB

Molecular functions related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein kinase C activity GO:0004697 9.16 PRKCA PRKCB
2 calcium-dependent protein kinase C activity GO:0004698 8.96 PRKCA PRKCB
3 histone kinase activity (H3-T6 specific) GO:0035403 8.62 PRKCA PRKCB

Sources for Myotonic Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....