MCID: MYT021
MIFTS: 61

Myotonic Dystrophy 1

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

Aliases & Classifications for Myotonic Dystrophy 1

MalaCards integrated aliases for Myotonic Dystrophy 1:

Name: Myotonic Dystrophy 1 54 71 13 38 69
Myotonic Dystrophy Type 1 12 23 50 24 56 14
Steinert Disease 12 50 56 71
Dm1 50 24 56 71
Congenital Myotonic Dystrophy 12 50 69
Steinert Myotonic Dystrophy 50 56 71
Steinert's Disease 23 50 24
Dystrophia Myotonica 12 71
Myotonic Dystrophy 42 69
Steinert Myotonic Dystrophy Syndrome 29
Myotonic Muscular Dystrophy Type 1 24
Myotonic Dystrophy of Steinert 12
Myotonic Dystrophy Congenital 52
Dystrophia Myotonica Type 1 50
Dystrophia Myotonica 1 71
Md1 56
Dm 71

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;

OMIM:

54
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:

32
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:



Summaries for Myotonic Dystrophy 1

OMIM : 54
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 congenital onset 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)

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 strabismus, intellectual disability, severe and hypertonia. An important gene associated with Myotonic Dystrophy 1 is DMPK (Dystrophia Myotonica Protein Kinase). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include breast, skeletal muscle and brain, 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 this condition doesn't have a summary yet. please see our page(s) on myotonic dystrophy.

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
dysphagia
recurrent intestinal pseudoobstruction
poor feeding (congenital form)

Head And Neck- Eyes:
cataract

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
Cardiovascular- Heart:
heart block
ekg abnormalities
atrial arrhythmias

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

Prenatal Manifestations- Movement:
reduced fetal movements (congenital form)

Neurologic- Central Nervous System:
cerebral atrophy
excessive daytime sleepiness
mild cognitive deterioration in adults
speech disability
reduced sleep latency
more
Genitourinary- Internal Genitalia Male:
hypogonadism
testicular atrophy

Abdomen- Biliary Tract:
cholelithiasis

Skin Nails & Hair- Hair:
frontal balding (male pattern baldness)

Genitourinary- Internal Genitalia Female:
uncoordinated uterine contraction

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios (congenital form)


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 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
2 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
3 hypertonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001276
4 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002827
6 respiratory distress 56 32 frequent (33%) Frequent (79-30%) HP:0002098
7 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
8 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
9 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
10 myotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002486
11 testicular atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000029
12 facial palsy 56 32 frequent (33%) Frequent (79-30%) HP:0010628
13 mask-like facies 56 32 hallmark (90%) Very frequent (99-80%) HP:0000298
14 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
15 skeletal muscle atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003202
16 abnormality of the endocrine system 56 32 frequent (33%) Frequent (79-30%) HP:0000818
17 hernia of the abdominal wall 56 32 occasional (7.5%) Occasional (29-5%) HP:0004299
18 intellectual disability, progressive 56 32 frequent (33%) Frequent (79-30%) HP:0006887
19 abnormality of the upper urinary tract 56 32 occasional (7.5%) Occasional (29-5%) HP:0010935
20 abnormal hair quantity 56 32 frequent (33%) Frequent (79-30%) HP:0011362
21 first degree atrioventricular block 56 32 hallmark (90%) Very frequent (99-80%) HP:0011705
22 non-midline cleft lip 56 32 occasional (7.5%) Occasional (29-5%) HP:0100335
23 dysphagia 32 HP:0002015
24 cerebral atrophy 32 HP:0002059
25 polyhydramnios 32 HP:0001561
26 muscle weakness 32 HP:0001324
27 atrial fibrillation 32 very rare (1%) HP:0005110
28 atrial flutter 32 very rare (1%) HP:0004749
29 hypogonadism 32 HP:0000135
30 cholelithiasis 32 HP:0001081
31 facial diplegia 32 HP:0001349
32 decreased fetal movement 32 HP:0001558
33 feeding difficulties in infancy 32 HP:0008872
34 excessive daytime sleepiness 32 HP:0002189
35 obsessive-compulsive trait 32 HP:0008770
36 malformation of the heart and great vessels 56 Frequent (79-30%)
37 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
38 frontal balding 32 HP:0002292

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 9.23 ATP2A1 CLCN1 DHCR7 DMPK MBNL1 MBNL3

Drugs & Therapeutics for Myotonic Dystrophy 1

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

(show top 50) (show all 147)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1 58-61-7 60961
4
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
5
Pertuzumab Approved Phase 3,Phase 1,Phase 2 145040-37-5, 380610-27-5 2540
6
Trastuzumab Approved, Investigational Phase 3,Phase 2,Phase 1 180288-69-1 9903
7
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
8
Tamoxifen Approved Phase 3,Phase 2 10540-29-1 2733526
9
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
10
Fesoterodine Approved Phase 3 286930-02-7, 286930-03-8 6918558
11
Gemcitabine Approved Phase 3,Phase 1,Phase 2 95058-81-4 60750
12
Vinorelbine Approved, Investigational Phase 3,Phase 1,Phase 2 71486-22-1 60780 44424639
13
Apomorphine Approved, Investigational Phase 3 41372-20-7, 58-00-4 6005
14
Levodopa Approved Phase 3 59-92-7 6047
15
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
16
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
17
Docetaxel Approved May 1996, Investigational Phase 3,Phase 2,Phase 1 114977-28-5 148124 9877265
18
Lapatinib Approved March 2007, Investigational Phase 3,Phase 1,Phase 2 231277-92-2, 388082-78-8 208908 9941095
19 Hormones Phase 3,Phase 1,Phase 2
20 Mitogens Phase 3,Phase 2,Phase 1
21 Adjuvants, Immunologic Phase 2, Phase 3
22 Central Nervous System Stimulants Phase 2, Phase 3
23 Dopamine Agents Phase 2, Phase 3
24 Dopamine Uptake Inhibitors Phase 2, Phase 3
25 Neurotransmitter Agents Phase 2, Phase 3
26 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
27 Ado-trastuzumab emtansine Phase 3,Phase 2,Phase 1
28 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
29 Antimitotic Agents Phase 3,Phase 2,Phase 1
30 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
31 Maytansine Phase 3,Phase 2,Phase 1
32 taxane Phase 3,Phase 2,Phase 1
33 Antimetabolites Phase 3,Phase 2,Phase 1
34 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
35 Protein Kinase Inhibitors Phase 3,Phase 1,Phase 2
36 Aromatase Inhibitors Phase 3,Phase 2
37 Prolactin Release-Inhibiting Factors Phase 3,Phase 2
38 Anticonvulsants Phase 3
39 calcium channel blockers Phase 3
40 Calcium, Dietary Phase 3
41 Diuretics, Potassium Sparing Phase 3,Phase 2
42 Excitatory Amino Acid Antagonists Phase 3,Phase 2
43 Excitatory Amino Acids Phase 3,Phase 2
44 Sodium Channel Blockers Phase 3,Phase 2
45 Cholinergic Agents Phase 3
46 Cholinergic Antagonists Phase 3
47 Muscarinic Antagonists Phase 3
48 Acyclovir Phase 3
49 Anti-Infective Agents Phase 3,Phase 1,Phase 2
50 Antiviral Agents Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 133)

id 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 A Study of Trastuzumab Emtansine (T-DM1) Plus Pertuzumab/Pertuzumab Placebo Versus Trastuzumab [Herceptin] Plus a Taxane in Participants With Metastatic Breast Cancer (MARIANNE) Completed NCT01120184 Phase 3 docetaxel;paclitaxel;pertuzumab;pertuzumab-placebo;trastuzumab [Herceptin];trastuzumab emtansine
5 A Study of Trastuzumab Emtansine Versus Capecitabine + Lapatinib in Participants With HER2-positive Locally Advanced or Metastatic Breast Cancer Completed NCT00829166 Phase 3 Trastuzumab emtansine;Lapatinib;Capecitabine
6 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 Trastuzumab emtansine;Treatment of physician's choice
7 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
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 SPM 907
9 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3 SPM 907
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 Acyclovir Lauriad;Placebo
12 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
13 A Phase III Trial of Pertuzumab Retreatment in Previously Pertuzumab Treated Her2-Positive Advanced Breast Cancer Recruiting NCT02514681 Phase 3 Trastuzumab;Pertuzumab;Docetaxel;Paclitaxel;Nab-paclitaxel;Vinorelbine;Eribulin;Capecitabine;Gemcitabine
14 Efficacy and Safety of Trastuzumab Emtansine in Chinese Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer Recruiting NCT03084939 Phase 3 Lapatinib;Capecitabine
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 APL-130277
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 Carboplatin;Docetaxel;Pertuzumab;Trastuzumab;Trastuzumab Emtansine
18 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 Active, not recruiting NCT01702571 Phase 3 Trastuzumab Emtansine
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 Taxane;trastuzumab emtansine;trastuzumab emtansine
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 rhIGF-I/rhIGFBP-3;placebo
21 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
22 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
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 SomatoKine/IPLEX
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 Docetaxel;Pertuzumab;Trastuzumab emtansine
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 Trastuzumab emtansine [Kadcyla]
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 Trastuzumab emtansine [Kadcyla]
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 Trastuzumab emtansine [Kadcyla] 3.0 mg/kg;Trastuzumab emtansine [Kadcyla] 3.6 mg/kg;Pertuzumab 420 mg
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 Trastuzumab emtansine [Kadcyla];Trastuzumab;Docetaxel
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 Trastuzumab emtansine
31 MLN2704 in Subjects With Metastatic Androgen-Independent Prostate Cancer Completed NCT00070837 Phase 1, Phase 2 MLN2704 (DM1 conjugated monoclonal antibody MLN591)
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 paclitaxel;pertuzumab [Perjeta];trastuzumab emtansine [Kadcyla];paclitaxel;trastuzumab emtansine [Kadcyla]
33 A Combination Study of Kadcyla (Trastuzumab Emtansine) and Capecitabine in Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Metastatic Breast Cancer (mBC) or HER2-Positive Locally Advanced/Metastatic Gastric Cancer (LA/mGC) Completed NCT01702558 Phase 2 Capecitabine;Trastuzumab emtansine
34 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 Neratinib;T-DM1
35 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Recruiting NCT02858908 Phase 2 Tideglusib
36 T-DM1 vs Paclitaxel/Trastuzumab for Breast (ATEMPT Trial) Recruiting NCT01853748 Phase 2 Trastuzumab;Paclitaxel;Trastuzumab emtansine
37 T-DM1+Pertuzumab in Pre-OP Early-Stage HER2+ BRCA Recruiting NCT02326974 Phase 2 T-DM1;Pertuzumab
38 T-DM1 Alone Versus T-DM1 and Metronomic Temozolomide in Secondary Prevention of HER2-Positive Breast Cancer Brain Metastases Following Stereotactic Radiosurgery Recruiting NCT03190967 Phase 1, Phase 2 T-DM1;TMZ
39 HER2 Imaging Study to Identify HER2 Positive Metastatic Breast Cancer Patient Unlikely to Benefit From T-DM1 Recruiting NCT01565200 Phase 2 T-DM1
40 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Recruiting NCT02251457 Phase 2 Ranolazine
41 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 Ribociclib;T-DM1;Trastuzumab
42 Vinorelbine With Trastuzumab Emtansine in Pre-Treated HER2-Positive Metastatic Breast Cancer Recruiting NCT02658084 Phase 1, Phase 2 Vinorelbine;Trastuzumab Emtansine
43 DS-8201a in Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Breast Cancer Recruiting NCT03248492 Phase 2 DS-8201a
44 Trastuzumab Emtansine in Treating Older Patients With Human Epidermal Growth Factor Receptor 2-Positive Stage I-III Breast Cancer Recruiting NCT02414646 Phase 2
45 Deciphering Antitumour Response and Resistance With INtratumour Heterogeneity Recruiting NCT02314481 Phase 2 MPDL3280A;Vemurafenib;Alectinib;Trastuzumab emtansine
46 TDM1 With Abraxane and Lapatinib for Metastatic HER2 Positive Breast Cancer Recruiting NCT02073916 Phase 1, Phase 2 TDM1;Lapatinib;Abraxane
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 Docetaxel;Paclitaxel;Pertuzumab;Trastuzumab;Trastuzumab Emtansine
48 Transplantation of Autologous Stem Cells for the Treatment of Type 1 Diabetes Mellitus Recruiting NCT02644759 Phase 1, Phase 2
49 I-SPY 2 TRIAL: Neoadjuvant and Personalized Adaptive Novel Agents to Treat Breast Cancer Recruiting NCT01042379 Phase 2 Standard Therapy;AMG 386 with or without Trastuzumab;AMG 479 (Ganitumab) plus Metformin;MK-2206 with or without Trastuzumab;AMG 386 and Trastuzumab;T-DM1 and Pertuzumab;Pertuzumab and Trastuzumab;Ganetespib;ABT-888;Neratinib;PLX3397;Pembrolizumab;Talazoparib plus Irinotecan;Patritumab and Trastuzumab
50 NEOADjuvant Aromatase Inhibitor and Pertuzumab/Trastuzumab for Women With Breast Cancer Recruiting NCT02689921 Phase 2 Exemestane;Letrozole;Anastrozole;Leuprolide Acetate;Pertuzumab;Trastuzumab

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
Breast, Skeletal Muscle, Brain, Smooth Muscle, Heart, Testes, Prostate

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
Gastroparesis in myotonic dystrophy 1. ( 21125412 )
2011
10
Implantable loop recorders in myotonic dystrophy 1. ( 21880381 )
2011
11
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. ( 20220122 )
2010
12
Pneumosinus dilatans and hypercalcification of the falx and ligamentum petroclinoideum in myotonic dystrophy 1. ( 20220451 )
2010
13
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. ( 20479119 )
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

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 GO:0016529 9.16 ATP2A1 DMPK
2 sarcoplasmic reticulum membrane GO:0033017 8.96 ATP2A1 DMPK
3 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 8.96 CNBP DHCR7
2 regulation of RNA splicing GO:0043484 8.8 CELF1 MBNL1 MBNL3

Sources for Myotonic Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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16 ExPASy
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