DM2
MCID: MYT020
MIFTS: 57

Myotonic Dystrophy 2 (DM2)

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

Aliases & Classifications for Myotonic Dystrophy 2

MalaCards integrated aliases for Myotonic Dystrophy 2:

Name: Myotonic Dystrophy 2 57 72 13
Myotonic Dystrophy Type 2 12 25 20 58 29 6 15
Proximal Myotonic Myopathy 57 73 25 20 58 72
Promm 57 25 20 72 54
Ricker Syndrome 57 20 58 72
Dystrophia Myotonica 2 57 72 70
Dm2 57 20 72
Myotonic Myopathy, Proximal 57 20
Myotonic Disorders 44 70
Proximal Myotonic Myopathy; Promm 57
Dystrophia Myotonica Type 2 20
Proximal Myotonic Dystrophy 58
Dystrophy, Myotonic, Type 2 39
Ricker Disease 58

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 05-Apr-2021)
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:

25
Penetrance Penetrance is age dependent and approaches 100%.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050759
OMIM® 57 602668
OMIM Phenotypic Series 57 PS160900
ICD9CM 34 359.2
NCIt 50 C84913
SNOMED-CT 67 155096007
ICD10 32 G71.1
MESH via Orphanet 45 D020967
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 71 C0752354 C2931689
Orphanet 58 ORPHA606
UMLS 70 C0553604 C2931689

Summaries for Myotonic Dystrophy 2

GARD : 20 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.

MalaCards based summary : Myotonic Dystrophy 2, also known as myotonic dystrophy type 2, is related to hyperkalemic periodic paralysis and myotonia, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Myotonic Dystrophy 2 is CNBP (CCHC-Type Zinc Finger Nucleic Acid Binding Protein), and among its related pathways/superpathways are Translation Factors and Protein methylation. The drugs Dichlorphenamide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and pancreas, and related phenotypes are cataract and myotonia

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 material basis in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.

OMIM® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Myotonic dystrophy is a type of muscular dystrophy, a group of long-term genetic disorders that impair... 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 top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 hyperkalemic periodic paralysis 30.7 SCN4A CNBP CLCN1
2 myotonia 30.4 SCN4A MBNL1 DMPK CNBP CLCN1
3 myotonic dystrophy 30.3 SIX5 MBNL3 MBNL2 MBNL1 LOC108644431 DMPK
4 muscular disease 30.0 MBNL1 DMPK CNBP CLCN1
5 muscular dystrophy 30.0 SCN4A MBNL1 DMPK CLCN1 CELF1
6 myotonia congenita 30.0 SCN4A LOC108644431 CNBP CLCN1
7 autosomal dominant cerebellar ataxia 29.9 PABPC1 MBNL1 DMPK CNBP CELF1 C9orf72
8 spinocerebellar ataxia 10 29.9 RNU105C MBNL1 CNBP C9orf72 ATXN8OS ATXN10
9 spinocerebellar ataxia 8 29.7 MBNL2 MBNL1 DMPK CNBP CELF1 C9orf72
10 neuromuscular disease 29.6 SCN4A MBNL2 MBNL1 DMPK CNBP CLCN1
11 myopathy 29.4 SCN4A MBNL1 LOC108644431 DMPK CNBP CLCN1
12 myotonic dystrophy 1 29.2 YIPF7 SIX5 MBNL3 MBNL2 MBNL1 DMPK
13 myotonic disease 28.7 YIPF7 SIX5 SCN4A MBNL3 MBNL2 MBNL1
14 myotonia, potassium-aggravated 11.0
15 restless legs syndrome 10.4
16 sleep disorder 10.4
17 paramyotonia congenita of von eulenburg 10.3
18 immature cataract 10.3 DMPK CNBP
19 hereditary ataxia 10.3 EEF2 ATXN8OS ATXN10
20 sleep apnea 10.3
21 dilated cardiomyopathy 10.3
22 polyneuropathy 10.3
23 epilepsy 10.3
24 fibromyalgia 10.3
25 dysphagia 10.3
26 pik3ca-related overgrowth syndrome 10.3
27 type 2 diabetes mellitus 10.2
28 hypothyroidism 10.2
29 myositis 10.2
30 primary hyperparathyroidism 10.2
31 hyperparathyroidism 10.2
32 personality disorder 10.2
33 hypogonadism 10.2
34 malignant hyperthermia 10.2
35 periodic paralysis 10.2
36 diabetes mellitus 10.2
37 oculopharyngeal muscular dystrophy 10.2 MBNL1 DMPK CNBP CELF1
38 spinocerebellar ataxia 37 10.2 ATXN8OS ATXN10
39 spinocerebellar ataxia 30 10.2 EEF2 ATXN10
40 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
41 clubfoot 10.2
42 muscular atrophy 10.2
43 muscle tissue disease 10.2 MBNL1 DMPK CNBP CLCN1
44 spinocerebellar ataxia 31 10.2 C9orf72 ATXN10
45 spinocerebellar ataxia 36 10.1 C9orf72 ATXN8OS ATXN10
46 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.1 MBNL1 C9orf72 ATXN10
47 schwartz-jampel syndrome, type 1 10.1
48 familial periodic paralysis 10.1 SCN4A CLCN1
49 lens disease 10.1 SIX5 MBNL1 DMPK CNBP CELF1
50 cataract 10.1

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



Diseases related to Myotonic Dystrophy 2

Symptoms & Phenotypes for Myotonic Dystrophy 2

Human phenotypes related to Myotonic Dystrophy 2:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
3 diabetes mellitus 31 HP:0000819
4 elevated serum creatine kinase 31 HP:0003236
5 myalgia 31 HP:0003326
6 tachycardia 31 HP:0001649
7 hypogonadism 31 HP:0000135
8 proximal muscle weakness 31 HP:0003701
9 oligospermia 31 HP:0000798
10 decreased circulating igg level 31 HP:0004315
11 decreased circulating total igm 31 HP:0002850
12 elevated circulating follicle stimulating hormone level 31 HP:0008232
13 frontal balding 31 HP:0002292
14 palpitations 31 HP:0001962
15 neck flexor weakness 31 HP:0003722
16 type 2 muscle fiber atrophy 31 HP:0003554
17 iridescent posterior subcapsular cataract 31 HP:0007889
18 insulin insensitivity 31 HP:0008189

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
diabetes mellitus
insulin insensitivity
low testosterone
elevated follicle stimulating hormone (fsh)

Laboratory Abnormalities:
elevated serum creatine kinase
increased lactate dehydrogenase
elevated gamma-glutamyltransferase (ggt)
increased cholesterol
increased alt
more
Genitourinary Internal Genitalia Male:
hypogonadism
oligospermia

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 (Updated 05-Apr-2021)

UMLS symptoms related to Myotonic Dystrophy 2:


muscle weakness; myalgia; muscle cramp; muscle rigidity; muscle spasticity

MGI Mouse Phenotypes related to Myotonic Dystrophy 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CLCN1 DMPK MBNL1 MBNL2 MBNL3 SCN4A

Drugs & Therapeutics for Myotonic Dystrophy 2

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
4 Carbonic Anhydrase Inhibitors Phase 3
5 Psychotropic Drugs Phase 3
6 Anticonvulsants Phase 3
7 Antipsychotic Agents Phase 3
8 Hormones Phase 3
9 calcium channel blockers Phase 3
10 Calcium, Dietary Phase 3
11 Sodium Channel Blockers Phase 3
12 Diuretics, Potassium Sparing Phase 3
13 Anti-Arrhythmia Agents Phase 3
14
Calcium Nutraceutical Phase 3 7440-70-2 271
15
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3 dichlorphenamide
2 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
3 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
4 An Open-label, Non-Comparative Study to Evaluate the Steady-State Pharmacokinetics, Safety, and Efficacy of Mexiletine in Adolescents and Children With Myotonic Disorders Not yet recruiting NCT04624750 Phase 3 Mexiletine
5 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
6 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Completed NCT03603171
7 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
8 An Observational Study to Describe the Long-term Safety and Effectiveness of Namuscla in the Symptomatic Management of Myotonia in Adult Patients With Non-dystrophic Myotonic Disorders Recruiting NCT04616807 Mexiletine
9 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
10 Myotonic Dystrophy Family Registry Recruiting NCT02398786
11 Using MRI to Quantify Fatty Infiltration in Muscle Tissue, and Compare it to Isometric Muscle Strength Measurements and (2) Use Questionnaires, Systemic Interview and Simple Myotonic Bed-side Tests to Describe the Phenotype. Recruiting NCT04808388
12 Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Mexiletine in Paediatric Patients With Myotonic Disorders Who Have Completed the MEX-NM-301 Study. Not yet recruiting NCT04622553 Mexiletine

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 29 CNBP

Anatomical Context for Myotonic Dystrophy 2

MalaCards organs/tissues related to Myotonic Dystrophy 2:

40
Skeletal Muscle, Eye, Pancreas, Brain, Heart, Liver, Occipital Lobe

Publications for Myotonic Dystrophy 2

Articles related to Myotonic Dystrophy 2:

(show top 50) (show all 317)
# Title Authors PMID Year
1
Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. 61 6 25 57
14505273 2003
2
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. 25 61 6 57
11486088 2001
3
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. 61 57 6
18057971 2008
4
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. 57 25 54 61
12601109 2003
5
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. 61 25 57
21364698 2011
6
Outcome and effect of pregnancy in myotonic dystrophy type 2. 25 57 61
16505316 2006
7
Sudden cardiac death in myotonic dystrophy type 2. 61 57 25
15623712 2004
8
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. 57 6
12970845 2003
9
Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands. 57 25
12921797 2003
10
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. 25 57
12796551 2003
11
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). 25 57
10063831 1999
12
Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. 61 57
21204798 2011
13
Laboratory abnormalities in patients with myotonic dystrophy type 2. 61 57
21911698 2011
14
Premutation allele pool in myotonic dystrophy type 2. 61 57
19020295 2009
15
Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM. 57 54
10665666 1999
16
Linkage of proximal myotonic myopathy to chromosome 3q. 57 61
9921867 1999
17
Genetic mapping of a second myotonic dystrophy locus. 57 61
9620781 1998
18
Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation. 57 54
9576553 1998
19
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. 54 57
7826272 1995
20
Thornton-Griggs-Moxley disease: myotonic dystrophy type 2. 57 61
7979231 1994
21
Consensus-based care recommendations for adults with myotonic dystrophy type 2. 61 25
31583190 2019
22
Heart involvement in patients with myotonic dystrophy type 2. 61 25
30536153 2019
23
Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2. 61 25
30739220 2019
24
Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review. 25 61
30048337 2018
25
Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2. 25 61
29601898 2018
26
Hearing impairment in patients with myotonic dystrophy type 2. 61 25
29343467 2018
27
Myotonic Dystrophy Type 2 - Data from the Serbian Registry. 61 25
30248060 2018
28
Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. 25 61
29086017 2017
29
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. 25 61
28910618 2017
30
Ophthalmic findings in myotonic dystrophy type 2: a case series. 61 25
27807619 2016
31
A Molecular Signature of Myalgia in Myotonic Dystrophy 2. 25 61
27322473 2016
32
Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2). 25 61
26581301 2015
33
The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): long-term outcomes. 61 25
23266299 2013
34
Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus. 25 61
23561036 2013
35
Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2. 61 25
22706481 2012
36
Sleep disordered breathing and other sleep dysfunction in myotonic dystrophy type 2. 61 25
22959494 2012
37
Delayed contrast enhancement on cardiac MRI unmasks subclinical cardiomyopathy in a case of myotonic dystrophy type 2. 61 25
22796821 2012
38
Cerebral and muscle MRI abnormalities in myotonic dystrophy. 61 25
22290140 2012
39
REM behavior disorder in myotonic dystrophy type 2. 61 25
22689737 2012
40
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. 57
22140091 2012
41
Sleep disturbances in myotonic dystrophy type 2. 25 61
23108384 2012
42
Pain in patients with myotonic dystrophy type 2: a postal survey in Finland. 25 61
22190310 2012
43
Clinical, electrophysiologic and pathologic findings in 10 patients with myotonic dystrophy 2. 25 61
22332444 2011
44
High disease impact of myotonic dystrophy type 2 on physical and mental functioning. 61 25
21461958 2011
45
Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. 61 25
21543227 2011
46
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. 57
21623381 2011
47
Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients. 25 61
20491895 2011
48
Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study. 25 61
20100232 2010
49
RNA-mediated neurodegeneration in repeat expansion disorders. 57
20373340 2010
50
Anesthesia and myotonic dystrophy type 2: a case series. 61 25
20077169 2010

Variations for Myotonic Dystrophy 2

ClinVar genetic disease variations for Myotonic Dystrophy 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNBP , LOC108644431 NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)] Microsatellite Pathogenic 17564 GRCh37: 3:128891444-128891447
GRCh38: 3:129172601-129172604

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 MAF bZIP transcription factor F Skeletal Muscle - 4.77 0.000
2 COL21A1 collagen type XXI alpha 1 chain Skeletal Muscle + 3.98 0.000
3 SPX spexin hormone Skeletal Muscle + 3.70 0.000
4 COL4A3 collagen type IV alpha 3 chain Skeletal Muscle + 3.68 0.000
5 ATP1B4 ATPase Na+/K+ transporting family member beta 4 Skeletal Muscle + 3.67 0.000
6 RARRES1 retinoic acid receptor responder 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 Skeletal Muscle - 3.19 0.000
12 NNMT nicotinamide N-methyltransferase Skeletal Muscle - 3.14 0.000
13 PTX3 pentraxin 3 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 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

Pathways related to Myotonic Dystrophy 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.58 PABPC1 EEF2 EEF1A1
2 10.23 EEF2 EEF1A1

GO Terms for Myotonic Dystrophy 2

Cellular components related to Myotonic Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex GO:1990904 9.13 PABPC1 EEF2 CELF1
2 cytoplasmic stress granule GO:0010494 8.92 PABPC1 MBNL1 CELF1 C9orf72

Biological processes related to Myotonic Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.73 RBMY1A1 PABPC1 MBNL3 MBNL2 MBNL1 CELF1
2 RNA splicing GO:0008380 9.63 RBMY1A1 PABPC1 MBNL3 MBNL2 MBNL1 CELF1
3 translational elongation GO:0006414 9.37 EEF2 EEF1A1
4 positive regulation of cytoplasmic translation GO:2000767 9.32 EEF2 CNBP
5 regulation of RNA splicing GO:0043484 9.26 MBNL3 MBNL2 MBNL1 CELF1
6 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.02 RBMY1A1 MBNL3 MBNL2 MBNL1 CELF1

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 9.28 RBMY1A1 PABPC1 MBNL3 MBNL2 MBNL1 EEF2
2 translation elongation factor activity GO:0003746 8.96 EEF2 EEF1A1

Sources for Myotonic Dystrophy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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