DM1
MCID: MYT021
MIFTS: 71

Myotonic Dystrophy 1 (DM1)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic 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 58 76 13 39 74
Myotonic Dystrophy Type 1 12 25 54 60 15
Steinert Disease 58 12 54 60 76
Dystrophia Myotonica 58 12 77 76
Dm1 58 54 60 76
Steinert Myotonic Dystrophy Syndrome 30 6 41
Congenital Myotonic Dystrophy 12 54 74
Steinert Myotonic Dystrophy 54 60 76
Dystrophia Myotonica 1 58 76
Myotonic Dystrophy 45 74
Steinert's Disease 25 54
Dm 58 76
Myotonic Dystrophy of Steinert 12
Myotonic Dystrophy Congenital 56
Dystrophia Myotonica Type 1 54
Dystrophia Myotonica; Dm 58
Md1 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
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:



Summaries for Myotonic Dystrophy 1

NIH Rare Diseases : 54 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 2 and myotonic dystrophy, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy 1 is DMPK (DM1 Protein Kinase), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Calcium signaling pathway. The drugs Zinc and Insulin glulisine have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and brain, and related phenotypes are hypertonia and intellectual disability, severe

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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Myotonic dystrophy is a long term genetic disorder that affects muscle function. Symptoms include... 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 408)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 2 31.2 CLCN1 CNBP DMPK MBNL1
2 myotonic dystrophy 31.1 CELF1 CLCN1 CNBP DMPK MBNL1 MBNL3
3 myotonia congenita 30.6 CLCN1 CNBP
4 myotonia 29.8 CLCN1 CNBP DMPK
5 muscle disorders 29.7 CLCN1 MIR206
6 muscular disease 28.2 ATP2A1 CELF1 CLCN1 CNBP DMPK MBNL1
7 myotonic disease 26.9 ATP2A1 CLCN1 CNBP DMPK MBNL1 MBNL3
8 epidermolysis bullosa simplex, dowling-meara type 11.9
9 pilomatrixoma 11.5
10 maturity-onset diabetes of the young 11.5
11 diabetes insipidus 11.5
12 diabetes mellitus 11.4
13 diabetes mellitus, insulin-dependent 11.4
14 childhood type dermatomyositis 11.4
15 neonatal dermatomyositis 11.4
16 dermatomyositis 11.4
17 major affective disorder 1 11.3
18 hypotonia 11.2
19 infantile hypotonia 11.2
20 swallowing disorders 11.2
21 floppy infant syndrome 11.2
22 diaphyseal medullary stenosis with malignant fibrous histiocytoma 11.1
23 diffuse mesangial sclerosis 11.1
24 epidermolysis bullosa simplex, ogna type 11.0
25 denys-drash syndrome 11.0
26 nephrotic syndrome, type 4 11.0
27 epidermolysis bullosa simplex with migratory circinate erythema 11.0
28 nephrotic syndrome, type 3 11.0
29 wolfram syndrome 11.0
30 myotonia atrophica 10.6
31 atrial fibrillation 10.5
32 cataract 10.4
33 hyperparathyroidism 10.3
34 adenoma 10.3
35 muscular dystrophy 10.3
36 hypersomnia 10.3
37 polyglucosan body myopathy 1 with or without immunodeficiency 10.3
38 sensory peripheral neuropathy 10.3
39 respiratory failure 10.3
40 myasthenia gravis 10.2
41 thymoma, familial 10.2
42 left ventricular noncompaction 10.2
43 thymoma 10.2
44 myasthenia gravis congenital 10.2
45 melanoma, uveal 10.2
46 hyperthyroidism 10.2
47 anxiety 10.2
48 neuroendocrine tumor 10.2
49 pancreatic neuroendocrine tumor 10.2
50 polyhydramnios 10.2

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:

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001276
2 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
3 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
4 myotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002486
5 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
6 mask-like facies 60 33 hallmark (90%) Very frequent (99-80%) HP:0000298
7 first degree atrioventricular block 60 33 hallmark (90%) Very frequent (99-80%) HP:0011705
8 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
9 facial palsy 60 33 frequent (33%) Frequent (79-30%) HP:0010628
10 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
11 respiratory distress 60 33 frequent (33%) Frequent (79-30%) HP:0002098
12 testicular atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000029
13 abnormality of the endocrine system 60 33 frequent (33%) Frequent (79-30%) HP:0000818
14 intellectual disability, progressive 60 33 frequent (33%) Frequent (79-30%) HP:0006887
15 abnormal hair quantity 60 33 frequent (33%) Frequent (79-30%) HP:0011362
16 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
17 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
18 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
19 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
20 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
21 hernia of the abdominal wall 60 33 occasional (7.5%) Occasional (29-5%) HP:0004299
22 abnormality of the upper urinary tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0010935
23 non-midline cleft lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0100335
24 atrial fibrillation 33 very rare (1%) HP:0005110
25 atrial flutter 33 very rare (1%) HP:0004749
26 muscle weakness 33 HP:0001324
27 dysphagia 33 HP:0002015
28 feeding difficulties in infancy 33 HP:0008872
29 malformation of the heart and great vessels 60 Frequent (79-30%)
30 cholelithiasis 33 HP:0001081
31 hypogonadism 33 HP:0000135
32 polyhydramnios 33 HP:0001561
33 decreased fetal movement 33 HP:0001558
34 facial diplegia 33 HP:0001349
35 generalized hypotonia 33 HP:0001290
36 cerebral atrophy 33 HP:0002059
37 excessive daytime sleepiness 33 HP:0002189
38 obsessive-compulsive trait 33 HP:0008770
39 frontal balding 33 HP:0002292

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
dysphagia
recurrent intestinal pseudoobstruction
poor feeding (congenital form)

Abdomen Biliary Tract:
cholelithiasis

Genitourinary Internal Genitalia Male:
hypogonadism
testicular atrophy

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

Cardiovascular Heart:
heart block
atrial arrhythmias
ekg abnormalities

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

UMLS symptoms related to Myotonic Dystrophy 1:


excessive daytime somnolence, weakness

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

47
# 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 199)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 2,Not Applicable 7440-66-6 32051
2
Insulin glulisine Approved Phase 4 207748-29-6
3
Insulin glargine Approved Phase 4 160337-95-1
4
Insulin Lispro Approved Phase 4 133107-64-9
5
Insulin Aspart Approved Phase 4 116094-23-6 16132418
6 Hypoglycemic Agents Phase 4,Phase 2,Not Applicable
7 Insulin, Globin Zinc Phase 4,Phase 2,Phase 1,Not Applicable
8 insulin Phase 4,Phase 2,Phase 1,Not Applicable
9 Insulin, Long-Acting Phase 4
10 Insulin degludec, insulin aspart drug combination Phase 4
11
Dopamine Approved Phase 2, Phase 3,Phase 3 62-31-7, 51-61-6 681
12
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
13
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 58-61-7 60961
14
Docetaxel Approved, Investigational Phase 3,Phase 2,Phase 1 114977-28-5 148124
15
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
16
Pertuzumab Approved Phase 3,Phase 1,Phase 2 380610-27-5, 145040-37-5 2540
17
Trastuzumab Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 180288-69-1 9903
18
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
19
Tamoxifen Approved Phase 3,Phase 2 10540-29-1 2733526
20
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 38904 498142
21
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
22
Fesoterodine Approved Phase 3 286930-03-8, 286930-02-7 6918558
23
Acyclovir Approved Phase 3 59277-89-3 2022
24
Vinorelbine Approved, Investigational Phase 3,Phase 2,Phase 1 71486-22-1 44424639 60780
25
Gemcitabine Approved Phase 3,Phase 1,Phase 2 95058-81-4 60750
26
Apomorphine Approved, Investigational Phase 3 58-00-4, 41372-20-7 6005
27
Levodopa Approved Phase 3 59-92-7 6047
28
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
29
Calcium Approved, Nutraceutical Phase 3,Not Applicable 7440-70-2 271
30
Lapatinib Approved March 2007, Investigational Phase 3,Phase 2,Phase 1 231277-92-2, 388082-78-8 208908 9941095
31
Camptothecin Experimental Phase 3,Phase 1,Phase 2 7689-03-4
32 Hormones Phase 3,Phase 1,Phase 2,Not Applicable
33 Mitogens Phase 3,Phase 2,Phase 1
34 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
35 Adjuvants, Immunologic Phase 2, Phase 3
36 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
37 Central Nervous System Stimulants Phase 2, Phase 3
38 Dopamine Agents Phase 2, Phase 3,Phase 3
39 Neurotransmitter Agents Phase 2, Phase 3,Phase 3
40 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
41 Dopamine Uptake Inhibitors Phase 2, Phase 3
42 taxane Phase 3,Phase 2,Phase 1
43 Antineoplastic Agents, Immunological Phase 3,Phase 2,Phase 1,Not Applicable
44 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
45 Maytansine Phase 3,Phase 2,Phase 1,Not Applicable
46 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
47 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Not Applicable
48 Ado-trastuzumab emtansine Phase 3,Phase 2,Phase 1,Not Applicable
49 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
50 Antimetabolites Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 Impact on the Oxidative Stress of the Different Analogues of Insulin in People With Type 1 Diabetes. (Ineox Study) Recruiting NCT03328845 Phase 4 Toujeo SoloStar;Tresiba;Humalog Kwikpen;NovoRapid;Apidra
2 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
3 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
4 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
5 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
6 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
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 Trastuzumab emtansine;Treatment of physician's choice
8 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 Completed NCT02131064 Phase 3 Carboplatin;Docetaxel;Pertuzumab;Trastuzumab;Trastuzumab Emtansine
9 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
10 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
11 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3 SPM 907
12 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
13 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3 Acyclovir Lauriad;Placebo
14 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
15 DS-8201a Versus T-DM1 for Human Epidermal Growth Factor Receptor 2 (HER2)-Positive, Unresectable and/or Metastatic Breast Cancer Previously Treated With Trastuzumab and Taxane [DESTINY-Breast03] Recruiting NCT03529110 Phase 3 Trastuzumab deruxtecan (DS-8201a);Ado-trastuzumab emtansine (T-DM1)
16 DS-8201a in Pre-treated HER2 Breast Cancer That Cannot be Surgically Removed or Has Spread [DESTINY-Breast02] Recruiting NCT03523585 Phase 3 Trastuzumab deruxtecan;Capecitabine;Lapatinib;Trastuzumab
17 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
18 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
19 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
20 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
21 Efficacy and Safety of Trastuzumab Emtansine in Chinese Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer Active, not recruiting NCT03084939 Phase 3 Lapatinib;Capecitabine
22 Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
23 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
24 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
25 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
26 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
27 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
28 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
29 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 Patients With Early Disease Progression Completed NCT00943670 Phase 2
30 A Study of Trastuzumab-Mcc-DM1 Administered Intravenously to Patients With HER2-Positive Metastatic Breast Cancer Completed NCT00679211 Phase 2 Trastuzumab emtansine [Kadcyla]
31 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
32 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]
33 Validity of HER2-amplified Circulating Tumor Cells to Select Metastatic Breast Cancer Considered HER2-negative for Trastuzumab-emtansine (T-DM1) Treatment. Completed NCT01975142 Phase 2 Trastuzumab - Emtansine
34 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
35 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 Trastuzumab Completed NCT00875979 Phase 1, Phase 2 Trastuzumab emtansine [Kadcyla] 3.0 mg/kg;Trastuzumab emtansine [Kadcyla] 3.6 mg/kg;Pertuzumab 420 mg
36 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 Disease Completed NCT00679341 Phase 2 Trastuzumab emtansine [Kadcyla];Trastuzumab;Docetaxel
37 MLN2704 in Subjects With Metastatic Androgen-Independent Prostate Cancer Completed NCT00070837 Phase 1, Phase 2 MLN2704 (DM1 conjugated monoclonal antibody MLN591)
38 Neoadjuvant TDM1 With Lapatinib and Abraxane Compared With Trastuzumab Plus Pertuzumab With Paclitaxel Completed NCT02073487 Phase 2 T-DM1;Trastuzumab;Lapatinib;Abraxane;Paclitaxel;Pertuzumab
39 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]
40 A Study of Trastuzumab Emtansine in Participants With Human Epidermal Growth Factor Receptor (HER)2 Immunohistochemistry (IHC)-Positive, Locally Advanced or Metastatic Non-Small Cell Lung Cancer (NSCLC) Completed NCT02289833 Phase 2 Trastuzumab Emtansine
41 Transplantation of Autologous Stem Cells for the Treatment of Type 1 Diabetes Mellitus Completed NCT02644759 Phase 1, Phase 2
42 T-DM1 and Palbociclib for Metastatic HER2 Breast Cancer Recruiting NCT03530696 Phase 2 Palbociclib;T-DM1
43 ATOP TRIAL: T-DM1 in HER2 Positive Breast Cancer Recruiting NCT03587740 Phase 2 T-DM1
44 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
45 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
46 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;Fulvestrant
47 Palbociclib in Estrogen Receptor Positive (ER+) Human Epidermal Growth Factor Receptor 2 Positive (HER2+) Metastatic Breast Cancer Recruiting NCT03709082 Phase 1, Phase 2 Palbociclib 75mg;Letrozole 2.5mg;T-DM1;Palbociclib 100mg;Palbociclib 125mg;Palbociclib
48 T-DM1 and Osimertinib Combination Treatment to Target HER2 Bypass Track Resistance in EGFR Mutation Positive NSCLC Recruiting NCT03784599 Phase 2 Trastuzumab emtansine;Osimertinib
49 Trial of Ibrutinib Plus Trastuzumab in HER2-amplified Metastatic Breast Cancer Recruiting NCT03379428 Phase 1, Phase 2 Trastuzumab;Ibrutinib 560 mg;Ibrutinib 840 mg;Ibrutinib 420 mg
50 Deciphering Antitumour Response and Resistance With INtratumour Heterogeneity Recruiting NCT02314481 Phase 2 MPDL3280A;Vemurafenib;Alectinib;Trastuzumab emtansine

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 30 DMPK

Anatomical Context for Myotonic Dystrophy 1

MalaCards organs/tissues related to Myotonic Dystrophy 1:

42
Heart, Skeletal Muscle, Brain, Testes, Eye, Smooth Muscle, Prostate

Publications for Myotonic Dystrophy 1

Articles related to Myotonic Dystrophy 1:

(show top 50) (show all 649)
# Title Authors Year
1
Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1. ( 30994189 )
2019
2
Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. ( 31010208 )
2019
3
Correction to: Affinity capillary electrophoresis for identification of active drug candidates in myotonic dystrophy type 1. ( 30443771 )
2019
4
Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? ( 30615069 )
2019
5
Reply: Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? ( 30615109 )
2019
6
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice. ( 30628727 )
2019
7
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. ( 30659139 )
2019
8
Health-related quality of life and its correlates in Japanese patients with myotonic dystrophy type 1. ( 30679907 )
2019
9
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. ( 30685181 )
2019
10
Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study. ( 30706460 )
2019
11
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. ( 30714084 )
2019
12
A neurodevelopmental approach to myotonic dystrophy type 1. ( 30761521 )
2019
13
Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1. ( 30767060 )
2019
14
Myotonic dystrophy type 1: clinical manifestations in children and adolescents. ( 29871899 )
2019
15
A model to predict ventilator requirement in Myotonic Dystrophy Type 1. ( 30895625 )
2019
16
Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1. ( 30891637 )
2019
17
Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis. ( 30870776 )
2019
18
Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1. ( 30852496 )
2019
19
What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. ( 30836978 )
2019
20
Progressive decline in daily and social activities: A 9-year longitudinal study of participation in myotonic dystrophy type 1. ( 30831092 )
2019
21
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study. ( 30798109 )
2019
22
Disease burden of myotonic dystrophy type 1. ( 30788616 )
2019
23
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1. ( 30304901 )
2019
24
Neurophysiological Evidence of Motor Network Reorganization in Myotonic Dystrophy Type 1: A Pilot Magnetoencephalographic Study. ( 30247381 )
2019
25
Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution. ( 30101452 )
2019
26
Survival patterns and cancer determinants in families with myotonic dystrophy type 1. ( 30051542 )
2019
27
Myotonic Dystrophy type 1, individualised respiratory care rather than standart prognostication. ( 31077949 )
2019
28
Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. ( 31048891 )
2019
29
Letter of response to "Myotonic dystrophy type 1, individualised respiratory care rather than standart prognostication". ( 31029882 )
2019
30
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. ( 31003788 )
2019
31
Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1. ( 30975744 )
2019
32
Perceived fatigue in myotonic dystrophy type 1: a case-control study. ( 30922263 )
2019
33
Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? ( 29361396 )
2018
34
Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. ( 30025114 )
2018
35
Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up. ( 30944906 )
2018
36
Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency. ( 29367875 )
2018
37
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
38
A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism. ( 30304928 )
2018
39
Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight. ( 30333784 )
2018
40
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study. ( 30342904 )
2018
41
Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1. ( 30349069 )
2018
42
Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1. ( 30425655 )
2018
43
Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient: A case report. ( 30508964 )
2018
44
Comparison of brain magnetic resonance imaging between myotonic dystrophy type 1 and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 30521610 )
2018
45
Structural white matter networks in myotonic dystrophy type 1. ( 30522973 )
2018
46
Non-invasive monitoring of alternative splicing outcomes to identify candidate therapies for myotonic dystrophy type 1. ( 30531949 )
2018
47
Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells. ( 30546383 )
2018
48
Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1. ( 30567354 )
2018
49
Consensus-based care recommendations for adults with myotonic dystrophy type 1. ( 30588381 )
2018
50
Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1. ( 30639849 )
2018

Variations for Myotonic Dystrophy 1

ClinVar genetic disease variations for Myotonic Dystrophy 1:

6 (show top 50) (show all 310)
# 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_001081560.2(DMPK): c.*224_*226CTG(51_?) NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770207
3 DM1-AS; DMPK; LOC107075317; LOC109461477 NM_004409.4(DMPK): c.*224CTG[(35_49)] NT expansion Benign GRCh38 Chromosome 19, 45770262: 45770264
4 DM1-AS; DMPK; LOC107075317; LOC109461477 NM_004409.4(DMPK): c.*224CTG[(35_49)] NT expansion Benign GRCh37 Chromosome 19, 46273520: 46273522
5 NM_001081563.1(DMPK): c.*224_*226CTG[(5-34)] NT expansion Benign
6 NM_001081563.1: c.*224_*226[(50-?)] NT expansion Pathogenic
7 DMPK NM_004409.4(DMPK): c.581+6T> C single nucleotide variant Benign rs1799894 GRCh38 Chromosome 19, 45778487: 45778487
8 DMPK NM_004409.4(DMPK): c.581+6T> C single nucleotide variant Benign rs1799894 GRCh37 Chromosome 19, 46281745: 46281745
9 DMPK NM_004409.4(DMPK): c.*224CTG[1142] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
10 DMPK NM_004409.4(DMPK): c.*224CTG[1236] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
11 DMPK NM_004409.4(DMPK): c.*224CTG[127] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
12 DMPK NM_004409.4(DMPK): c.*224CTG[134] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
13 DMPK NM_004409.4(DMPK): c.*224_*226[146] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
14 DMPK NM_004409.4(DMPK): c.*224CTG[160] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
15 DMPK NM_004409.4(DMPK): c.*224CTG[169] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
16 DMPK NM_004409.4(DMPK): c.*224CTG[182] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
17 DMPK NM_004409.4(DMPK): c.*224CTG[214] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
18 DMPK NM_004409.4(DMPK): c.*224CTG[229] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
19 DMPK NM_004409.4(DMPK): c.*224CTG[236] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
20 DMPK NM_004409.4(DMPK): c.*224CTG[236] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
21 DMPK NM_004409.4(DMPK): c.*224CTG[238] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
22 DMPK NM_004409.4(DMPK): c.*224CTG[238] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
23 DMPK NM_004409.4(DMPK): c.*224CTG[241] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
24 DMPK NM_004409.4(DMPK): c.*224CTG[241] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
25 DMPK NM_004409.4(DMPK): c.*224CTG[255] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
26 DMPK NM_004409.4(DMPK): c.*224CTG[255] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
27 DMPK NM_004409.4(DMPK): c.*224CTG[256] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
28 DMPK NM_004409.4(DMPK): c.*224CTG[260] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
29 DMPK NM_004409.4(DMPK): c.*224CTG[214] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
30 DMPK NM_004409.4(DMPK): c.*224CTG[216] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
31 DMPK NM_004409.4(DMPK): c.*224CTG[197] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
32 DMPK NM_004409.4(DMPK): c.*224CTG[197] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
33 DMPK NM_004409.4(DMPK): c.*224CTG[216] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
34 DMPK NM_004409.4(DMPK): c.*224CTG[225] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
35 DMPK NM_004409.4(DMPK): c.*224CTG[225] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
36 DMPK NM_004409.4(DMPK): c.*224CTG[256] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
37 DMPK NM_004409.4(DMPK): c.*224CTG[229] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
38 DMPK NM_004409.4(DMPK): c.*224CTG[232] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
39 DMPK NM_004409.4(DMPK): c.*224CTG[232] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
40 DMPK NM_004409.4(DMPK): c.*224CTG[235] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
41 DMPK NM_004409.4(DMPK): c.*224CTG[1681] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
42 DMPK NM_004409.4(DMPK): c.*224CTG[1681] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
43 DMPK NM_004409.4(DMPK): c.*224CTG[168] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
44 DMPK NM_004409.4(DMPK): c.*224CTG[168] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
45 DMPK NM_004409.4(DMPK): c.*224CTG[169] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
46 DMPK NM_004409.4(DMPK): c.*224CTG[235] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
47 DMPK NM_004409.4(DMPK): c.*224CTG[175] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
48 DMPK NM_004409.4(DMPK): c.*224CTG[175] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463
49 DMPK NM_004409.4(DMPK): c.*224CTG[181] NT expansion Pathogenic GRCh38 Chromosome 19, 45770205: 45770205
50 DMPK NM_004409.4(DMPK): c.*224CTG[181] NT expansion Pathogenic GRCh37 Chromosome 19, 46273463: 46273463

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 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:

# Super pathways Score Top Affiliating Genes
1 11.94 ATP2A1 PRKCA PRKCB
2
Show member pathways
11.72 ATP2A1 PRKCA PRKCB
3 11.12 ATP2A1 PRKCA PRKCB
4 10.94 PRKCA PRKCB
5 10.89 PRKCA PRKCB
6 10.62 PRKCA PRKCB
7 10.36 MIR206 PRKCA PRKCB

GO Terms for Myotonic Dystrophy 1

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.54 DMPK PRKCA PRKCB
2 cellular calcium ion homeostasis GO:0006874 9.5 ATP2A1 DMPK PRKCB
3 cholesterol biosynthetic process GO:0006695 9.43 CNBP DHCR7
4 regulation of cardiac conduction GO:1903779 9.4 ATP2A1 DMPK
5 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.33 CELF1 MBNL1 MBNL3
6 mitotic nuclear envelope disassembly GO:0007077 9.26 PRKCA PRKCB
7 regulation of RNA splicing GO:0043484 9.13 CELF1 MBNL1 MBNL3
8 histone H3-T6 phosphorylation GO:0035408 8.62 PRKCA PRKCB

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase C activity GO:0004697 8.96 PRKCA PRKCB
2 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....