MCID: MYT020
MIFTS: 56

Myotonic Dystrophy 2

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

Aliases & Classifications for Myotonic Dystrophy 2

MalaCards integrated aliases for Myotonic Dystrophy 2:

Name: Myotonic Dystrophy 2 53 71 13
Proximal Myotonic Myopathy 53 12 72 23 49 55 71
Myotonic Dystrophy Type 2 12 23 49 55 28 14
Promm 53 23 49 71 51
Ricker Syndrome 53 49 55 71
Dystrophia Myotonica 2 53 71 69
Dm2 53 49 71
Myotonic Myopathy, Proximal 53 49
Myotonic Disorders 41 69
Proximal Myotonic Myopathy; Promm 53
Dystrophia Myotonica Type 2 49
Proximal Myotonic Dystrophy 55
Ricker Disease 55

Characteristics:

Orphanet epidemiological data:

55
proximal myotonic myopathy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Germany),1-9/100000 (Europe),1-5/10000 (Finland),1-9/1000000 (United Kingdom); Age of onset: Adult; Age of death: elderly;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset (range 13 to 67 years, median 48 years)
no congenital form
pathogenic alleles contain 75-11,000 repeats
normal alleles contain up to 30 repeats
repeat tracts may expand as patient ages (somatic instability)
smaller repeat lengths in younger generations (reverse anticipation)
see myotonic dystonia 1 (dm1, ) for a disorder with a similar phenotype


HPO:

31
myotonic dystrophy 2:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Disease penetrance reflects both an individual's sensitivity for his/her symptoms and a physician's ability to correctly identify and interpret signs of the disease. as affected families and their physicians become increasingly aware of the clinical features of dm2, penetrance approaches 100%...

Classifications:



External Ids:

OMIM 53 602668
Disease Ontology 12 DOID:0050759
ICD10 32 G71.1 G71.19
ICD9CM 34 359.2
Orphanet 55 ORPHA606
MESH via Orphanet 42 D020967
UMLS via Orphanet 70 C0752354 C2931689
ICD10 via Orphanet 33 G71.1

Summaries for Myotonic Dystrophy 2

NIH Rare Diseases : 49 Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms usually develop during a person's twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved. The severity of myotonic dystrophy type 2 varies widely among affected people, even among family members. It is inherited in an autosomal dominant pattern and is caused by mutations in the CNBP gene. Treatment is based on each person's specific signs and symptoms. Last updated: 2/10/2014

MalaCards based summary : Myotonic Dystrophy 2, also known as proximal myotonic myopathy, is related to myotonic disease and myotonia congenita, and has symptoms including cataract, myotonia and myalgia. An important gene associated with Myotonic Dystrophy 2 is CNBP (CCHC-Type Zinc Finger Nucleic Acid Binding Protein). The drugs Exenatide and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011). See also myotonic dystrophy-1 (DM1; 160900), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK; 605377) on 19q13. Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003). (602668)

UniProtKB/Swiss-Prot : 71 Dystrophia myotonica 2: A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases.

Disease Ontology : 12 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has physical basis in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.

Wikipedia : 72 Myotonic dystrophy is a long term genetic disorder that affects muscle function. Symptoms include... more...

GeneReviews: NBK1466

Related Diseases for Myotonic Dystrophy 2

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1 Myotonic Dystrophy 2

Diseases related to Myotonic Dystrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 myotonic disease 30.6 CLCN1 CNBP DMPK MBNL1
2 myotonia congenita 29.3 CLCN1 CNBP DMPK
3 myotonic dystrophy 28.6 CLCN1 CNBP DMPK MBNL1
4 myotonic dystrophy 1 28.2 CLCN1 CNBP DMPK MBNL1
5 myotonia 28.0 CLCN1 CNBP DMPK MBNL1
6 non-dystrophic myotonic disorders 12.0
7 myopathy 10.4
8 schwartz-jampel syndrome, type 1 10.0
9 episodic ataxia, type 1 9.9
10 paramyotonia congenita of von eulenburg 9.9
11 myotonia, potassium-aggravated 9.9
12 episodic ataxia 9.9
13 liver cirrhosis 9.8
14 frontotemporal dementia 9.6
15 dementia 9.6
16 malignant hyperthermia 9.6
17 muscle tissue disease 8.9 CLCN1 DMPK MBNL1

Graphical network of the top 20 diseases related to Myotonic Dystrophy 2:



Diseases related to Myotonic Dystrophy 2

Symptoms & Phenotypes for Myotonic Dystrophy 2

Symptoms via clinical synopsis from OMIM:

53
Endocrine Features:
diabetes mellitus
low testosterone
insulin insensitivity
elevated follicle stimulating hormone (fsh)

Genitourinary Internal Genitalia Male:
hypogonadism
oligospermia

Laboratory Abnormalities:
elevated serum creatine kinase
increased lactate dehydrogenase
elevated gamma-glutamyltransferase (ggt)
increased cholesterol
increased alt
more
Skin Nails Hair Skin:
hyperhydrosis

Head And Neck Eyes:
cataracts, posterior, subcapsular, iridescent

Muscle Soft Tissue:
myotonia
proximal muscle weakness
neck flexor weakness
muscle pain
type 2 fiber atrophy
more
Cardiovascular Heart:
tachycardia
palpitations
cardiac conduction abnormalities

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

Neurologic Central Nervous System:
no mental retardation

Immunology:
decreased serum igg and igm
decreased absolute lymphocytes


Clinical features from OMIM:

602668

Human phenotypes related to Myotonic Dystrophy 2:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 myotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002486
3 myalgia 31 HP:0003326
4 diabetes mellitus 31 HP:0000819
5 elevated serum creatine phosphokinase 31 HP:0003236
6 hypogonadism 31 HP:0000135
7 oligospermia 31 HP:0000798
8 igm deficiency 31 HP:0002850
9 igg deficiency 31 HP:0004315
10 tachycardia 31 HP:0001649
11 proximal muscle weakness 31 HP:0003701
12 frontal balding 31 HP:0002292
13 type 2 muscle fiber atrophy 31 HP:0003554
14 palpitations 31 HP:0001962
15 neck flexor weakness 31 HP:0003722
16 insulin insensitivity 31 HP:0008189
17 elevated circulating follicle stimulating hormone level 31 HP:0008232
18 iridescent posterior subcapsular cataract 31 HP:0007889

UMLS symptoms related to Myotonic Dystrophy 2:


myalgia, muscle weakness, muscle spasticity, muscle rigidity, muscle cramp

GenomeRNAi Phenotypes related to Myotonic Dystrophy 2 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.17 CNBP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.17 CLCN1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.17 CLCN1 CNBP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.17 CLCN1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.17 CNBP
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.17 CNBP

Drugs & Therapeutics for Myotonic Dystrophy 2

Drugs for Myotonic Dystrophy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 199)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
2
Liraglutide Approved Phase 4,Phase 3,Phase 2 204656-20-2 44147092
3
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1 657-24-9 4091 14219
4
Ezetimibe Approved Phase 4 163222-33-1 150311
5
Simvastatin Approved Phase 4 79902-63-9 54454
6
Zinc Approved, Investigational Phase 4,Phase 3 7440-66-6 32051 23994
7
Everolimus Approved Phase 4 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 4 53123-88-9 46835353 6436030 5284616
10
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
11
Glyburide Approved Phase 4,Phase 2 10238-21-8 3488
12
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
13
Insulin Glargine Approved Phase 4,Phase 3,Phase 2 160337-95-1
14
Insulin Lispro Approved Phase 4 133107-64-9
15
Canagliflozin Approved Phase 4 842133-18-0
16
Empagliflozin Approved Phase 4,Phase 3 864070-44-0
17
Linagliptin Approved Phase 4,Phase 3 668270-12-0 10096344
18
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
19
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
20
Rifampin Approved Phase 4 13292-46-1 5381226 5458213
21
Cetirizine Approved Phase 4 83881-51-0 2678
22
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
23
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
24
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
25
Pyridoxal Approved, Nutraceutical Phase 4 66-72-8 1050
26
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
27 Glucagon-Like Peptide 1 Phase 4,Phase 3,Phase 2
28 Hormone Antagonists Phase 4,Phase 3,Phase 1
29 Hormones Phase 4,Phase 3,Phase 1
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1
31 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Incretins Phase 4,Phase 3
33 Anticholesteremic Agents Phase 4
34 Antimetabolites Phase 4,Phase 3
35 Atorvastatin Calcium Phase 4 134523-03-8
36 Calcium, Dietary Phase 4,Phase 3
37 Ezetimibe, Simvastatin Drug Combination Phase 4
38 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
39 Hypolipidemic Agents Phase 4,Phase 3
40 Lipid Regulating Agents Phase 4,Phase 3
41 insulin Phase 4,Phase 3,Phase 2
42 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2
43 Sitagliptin Phosphate Phase 4,Phase 3
44 Anti-Bacterial Agents Phase 4,Phase 3
45 Antibiotics, Antitubercular Phase 4,Phase 3
46 Antifungal Agents Phase 4
47 Anti-Infective Agents Phase 4,Phase 3,Phase 2
48 Immunosuppressive Agents Phase 4,Phase 3,Phase 1
49 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Antimalarials Phase 4

Interventional clinical trials:

(show top 50) (show all 106)

# Name Status NCT ID Phase Drugs
1 The Effect of the GLP-1 Receptor Agonists on Blood Levels of Lipoprotein (a) Unknown status NCT02501850 Phase 4 Liraglutide;metformin
2 Study to Compare the Effect of Vytorin (Simvastatin/Ezetimibe) 10/20mg Versus Atorvastatin 20mg on ApoB/ApoA1 Ratio in Subjects With Diabetes Unknown status NCT01185236 Phase 4 simvastatin/ezetimibe;atorvastatin 20mg
3 Comparison of Zotarolimus-Eluting Stent vs Sirolimus-Eluting Stent for Diabetic Patients Completed NCT01186107 Phase 4
4 Examination of the Anti-inflammatory and Insulin Sensitizing Properties of Doxycycline in Humans Completed NCT01375491 Phase 4 Doxycycline
5 Effect of Liraglutide on Cardiovascular Endpoints in Diabetes Mellitus Type 2 Patients Completed NCT01761318 Phase 4 Liraglutide;Liraglutide - Placebo
6 Vildagliptin vs. Glibenclamide in Endothelial Function in Type 2 Diabetes and Hypertension Completed NCT02145611 Phase 4 Glibenclamide;Vildagliptin
7 Effectiveness of PRECEDE Model for Health Education on Changes and Level of Control in Patients With Type 2 Diabetes Mellitus Completed NCT01316367 Phase 4
8 Sitagliptin + Metformin Compared to Metformin Monotherapy and Placebo in Women With a Recent GDM Completed NCT01856907 Phase 4 Sitagliptin-Metformin;Metformin;Placebo pill
9 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4 Glargine insulin;NPH insulin
10 PRELIMINARY EVALUATION OF PHARMACOLOGICAL LOWERING OF AGEs Completed NCT02249897 Phase 4 CHOLESTYRAMINE
11 Dapagliflozin and Cholesterol Metabolism in Type 2 Diabetes (DM2) Recruiting NCT03074630 Phase 4 Dapagliflozin;Rosuvastatin
12 Effect of Exenatide LAR or Dulaglutide on the Variability of 24-hour Heart Rate and Blood Pressure in Type 2 Diabetes Recruiting NCT03444142 Phase 4 Exenatide LAR;Dulaglutide
13 Roux-en-Y Gastric Bypass for BMI 27-32 Type 2 Diabetes Versus Best Medical Treatment Recruiting NCT02041234 Phase 4 Incretin analogues;Xenical;SGLT2 inhibitors;DPP-4 Inhibitors
14 Efficacy, Security, Adherence, Tolerability and Cost Effectiveness of Latent TB Treatment in Patients With TB/DM2 (TBL) Active, not recruiting NCT03278483 Phase 4 Isoniazid 300 mg Oral Tablet;Rifampin 600 mg Oral Tablet
15 Effect of Liraglutide on Cardiovascular Endpoints in Diabetes Mellitus Type 2 Patients of South Asian Descent Active, not recruiting NCT02660047 Phase 4 Liraglutide;Liraglutide - Placebo
16 Effect of Dapagliflozin on Blood Pressure Variability in Prediabetes and Prehypertension Active, not recruiting NCT03006471 Phase 4 Dapagliflozin;Placebo - Cap
17 Influence of OCT2 Inhibitor Cetirizine and Type 2 Diabetes on Gabapentin Kinetics Disposition in Patients With Neuropathic Pain Enrolling by invitation NCT03047278 Phase 4 Gabapentin 300 mg;Cetirizine Hydrochloride 10 mg
18 Effect of the Chromium Nicotinate on Type 2 Diabetes Unknown status NCT01368328 Phase 3
19 A Double-Blind, Randomized, Active-Comparator (Metformin) Controlled, Clinical Trial to Study the Efficacy and Safety of the Strategy to Start Patients With Type 2 Diabetes Mellitus on Janumet™ Compared to Metformin Unknown status NCT00684528 Phase 3 Metformin 1500 mg daily;Metformin + Janufer (Janumet)
20 Exalenz Lab Mode System Compared to Biopsy for H.Pylori Detection Completed NCT02528721 Phase 3
21 Combination Chemotherapy in Treating Children With Acute Lymphoblastic Leukemia Completed NCT00005585 Phase 3 cyclophosphamide;cytarabine;daunorubicin hydrochloride;dexamethasone;leucovorin calcium;mercaptopurine;methotrexate;pegaspargase;thioguanine;vincristine sulfate
22 Inpatient Diabetes Mellitus (DM) Management With Continuous Glucose Monitoring Devices Recruiting NCT02904512 Phase 2, Phase 3
23 Effects of Empagliflozin + Linagliptin vs Metformin + Insulin Glargine on Renal and Vascular Changes in Type 2 Diabetes Recruiting NCT02752113 Phase 3 Empagliflozin and Linagliptin;Metformin and Insulin sc
24 Comparison of Insulin Tregopil (IN-105) With Insulin Aspart in Type 2 Diabetes Mellitus Patients Recruiting NCT03430856 Phase 2, Phase 3 Insulin Tregopil;Insulin Aspart
25 Combined Liraglutide and Metformin Therapy in Women With Previous Gestational Diabetes Mellitus (GDM) Active, not recruiting NCT01234649 Phase 3 Metformin XR plus placebo;Metformin XR plus liraglutide
26 Safety and Efficiency of Linagliptin (Trajenta) in the Setting of Internal Medicine Department Not yet recruiting NCT03051243 Phase 3 Linagliptin and Basal Insulin;Basal Insulin and Bolus Insulin
27 Vascular Effects of Hesperidin in Metabolic Syndrome Unknown status NCT00914251 Phase 2 Hesperidin;Placebo
28 Effects of Atazanavir Treatment on Type 2 Diabetes Mellitus Related Endothelial Dysfunction Completed NCT00696722 Phase 2 placebo + atazanavir;atazanavir + placebo
29 Optimized Glycemic Control in Heart Failure Patients With DM2:"Effect on Left Ventricular Function and Skeletal Muscle" Completed NCT01213784 Phase 2
30 Effect of Ursolic Acid Administration on Insulin Sensitivity and Metabolic Syndrome Completed NCT02337933 Phase 2 Ursolic acid;Placebo
31 Effect of Green Tea Extract on Arterial Stiffness in Type 2 Diabetes Mellitus Completed NCT02627898 Phase 2 green tea extract;placebo
32 Mulberry Leaf Extract and Blood Glucose Control in Diabetics Completed NCT01305434 Phase 1, Phase 2
33 The Effect of Hesperidin on Glucose / Insulin Metabolism Completed NCT02610491 Phase 2
34 Efficacy of Pirfenidone Plus MODD in Diabetic Foot Ulcers Completed NCT02632877 Phase 1, Phase 2 Pirfenidone with MODD;Ketanserin
35 Medically Reproducing Bariatric Surgery Active, not recruiting NCT03225209 Phase 2
36 Effect of Propolis or Metformin Administration on Glycemic Control in Patients With Diabetes Mellitus Type 2 Not yet recruiting NCT03416127 Phase 2 Propolis;Metformin;Placebo
37 Trial of Dextromethorphan in Rett Syndrome Terminated NCT00593957 Phase 2 Dextromethorphan;Dextromethorphan
38 Effects of Drospirenone-ethinylestradiol and/or NOMAC-valerate Estradiol on Cardiovascular Risk in Women With Polycystic Ovary Syndrome Unknown status NCT01603745 Phase 1 Zoely;Yasmin
39 BIOAVAILABILITY OF Glimepiride/Extended Release Metformin (GLI/METXR): High Fat Diet Study Completed NCT01437813 Phase 1 Glimepiride/extended release Metformin
40 BIOAVAILABILITY OF GLI/METXR (4/850 mg) Completed NCT01437800 Phase 1 Glimepiride/extended release Metformin (4/850 mg).
41 A Study to Assess the Pharmacokinetics, Safety and Tolerability of CT327 in Healthy Male Volunteers Completed NCT01243502 Phase 1 0.01% CT327 (or placebo);0.001% CT327 (or placebo)
42 Comparison of Two Insulin Regimens in Optimally-controlled Patients With DM2. Unknown status NCT01627509
43 Analisys of Neuromuscular Response, Postural Balance and Quality of Life of Diabetics Type 2 After Sensory-motor Training: Blind Random Controled Clinical Trial Unknown status NCT01861392
44 Oxidative Stress in Intestinal Metaplasia and Metabolic Syndrome Unknown status NCT02695186
45 Dysphagia and Pneumonia Unknown status NCT01974089
46 Effects of Polyphenol Containing Antioxidants on Oxidative Stress in Diabetic Patients Unknown status NCT00682149
47 The PRIMAVERA Study: Reduxine Safety Monitoring in Patients With Alimentary Obesity Unknown status NCT01773733
48 Lifestyle Advises Sent Via Email in Attempt of Improving A1C in DM2 Patients Completed NCT03168633
49 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
50 Evolution With CPAP Treatment of a Cohort of Type 2 Diabetic Patients With Apnea-hypopnea Syndrome Completed NCT01307566

Search NIH Clinical Center for Myotonic Dystrophy 2

Cochrane evidence based reviews: myotonic disorders

Genetic Tests for Myotonic Dystrophy 2

Genetic tests related to Myotonic Dystrophy 2:

# Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 2 28 CNBP

Anatomical Context for Myotonic Dystrophy 2

MalaCards organs/tissues related to Myotonic Dystrophy 2:

38
Skeletal Muscle, Heart, Eye, Smooth Muscle, Pancreas, Endothelial, Liver

Publications for Myotonic Dystrophy 2

Articles related to Myotonic Dystrophy 2:

(show all 22)
# Title Authors Year
1
A Molecular Signature of Myalgia in Myotonic Dystrophy 2. ( 27322473 )
2016
2
Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis. ( 26138792 )
2015
3
Clinical, electrophysiologic and pathologic findings in 10 patients with myotonic dystrophy 2. ( 22332444 )
2011
4
Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. ( 19590039 )
2009
5
Reduction of the rate of protein translation in patients with myotonic dystrophy 2. ( 19605641 )
2009
6
Rational and modular design of potent ligands targeting the RNA that causes myotonic dystrophy 2. ( 19348464 )
2009
7
Does proximal myotonic myopathy show anticipation? ( 18484632 )
2008
8
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. ( 14666402 )
2004
9
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). ( 14678804 )
2003
10
Intolerance to neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia. ( 11731282 )
2002
11
Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2). ( 10996776 )
2000
12
Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy. ( 10382907 )
1999
13
Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM. ( 10665666 )
1999
14
Linkage of proximal myotonic myopathy to chromosome 3q. ( 9921867 )
1999
15
Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation. ( 9576553 )
1998
16
[A patient with muscle pain after a journey to the tropics. Myocardial involvement in proximal myotonic myopathy]. ( 9810285 )
1998
17
A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. ( 8784800 )
1996
18
Heat-sensitive myotonia in proximal myotonic myopathy. ( 8857726 )
1996
19
Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? ( 8923304 )
1996
20
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. ( 7826272 )
1995
21
Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. ( 8058147 )
1994
22
Electrophysiological studies in myotonic dystrophy. 2: Single fibre E.M.G. ( 6510352 )
1984

Variations for Myotonic Dystrophy 2

ClinVar genetic disease variations for Myotonic Dystrophy 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNBP NM_003418.4(CNBP): c.-14-833_-14-830(75_11000) NT expansion Pathogenic rs387906559 GRCh37 Chromosome 3, 128891444: 128891447

Expression for Myotonic Dystrophy 2

LifeMap Discovery
Genes differentially expressed in tissues of Myotonic Dystrophy 2 patients vs. healthy controls: 35 (show all 19)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F Skeletal Muscle - 4.77 0.000
2 COL21A1 collagen, type XXI, alpha 1 Skeletal Muscle + 3.98 0.000
3 SPX spexin hormone Skeletal Muscle + 3.70 0.000
4 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Skeletal Muscle + 3.68 0.000
5 ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide Skeletal Muscle + 3.67 0.000
6 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 Skeletal Muscle - 3.50 0.000
7 NEB nebulin Skeletal Muscle + 3.26 0.000
8 PPP1R3A protein phosphatase 1, regulatory subunit 3A Skeletal Muscle + 3.25 0.000
9 AQP4 aquaporin 4 Skeletal Muscle + 3.25 0.000
10 THBS1 thrombospondin 1 Skeletal Muscle - 3.21 0.000
11 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) Skeletal Muscle - 3.19 0.000
12 NNMT nicotinamide N-methyltransferase Skeletal Muscle - 3.14 0.000
13 PTX3 pentraxin 3, long Skeletal Muscle - 3.13 0.001
14 SCD5 stearoyl-CoA desaturase 5 Skeletal Muscle + 3.12 0.000
15 RIF1 replication timing regulatory factor 1 Skeletal Muscle + 3.10 0.000
16 SLC39A14 solute carrier family 39 (zinc transporter), member 14 Skeletal Muscle - 3.06 0.000
17 MT1M metallothionein 1M Skeletal Muscle - 3.03 0.000
18 NFIL3 nuclear factor, interleukin 3 regulated Skeletal Muscle - 3.02 0.000
19 PRPF38B pre-mRNA processing factor 38B Skeletal Muscle + 3.01 0.000
Search GEO for disease gene expression data for Myotonic Dystrophy 2.

Pathways for Myotonic Dystrophy 2

GO Terms for Myotonic Dystrophy 2

Molecular functions related to Myotonic Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 8.92 CNBP EEF2 MBNL1 RBMY1A1

Sources for Myotonic Dystrophy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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