MCID: MYT020
MIFTS: 40

Myotonic Dystrophy 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases categories

Summaries for Myotonic Dystrophy 2

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NIH Rare Diseases:41 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 myotonic dystrophy type 2, is related to myotonic dystrophy and restless legs syndrome, and has symptoms including cataract, myotonia and autosomal dominant inheritance. An important gene associated with Myotonic Dystrophy 2 is CNBP (CCHC-type zinc finger, nucleic acid binding protein). Affiliated tissues include eye, heart and smooth muscle.

Disease Ontology:9 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.

OMIM:45 Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals... (602668) more...

GeneReviews summary for myotonic-d2

Aliases & Classifications for Myotonic Dystrophy 2

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Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 43Novoseek, 60UMLS, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
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Myotonic Dystrophy 2, Aliases & Descriptions:

Name: Myotonic Dystrophy 2 45 10
Myotonic Dystrophy Type 2 9 63 19 41 20 47 22
Proximal Myotonic Myopathy 9 63 19 41 47
Promm 63 19 41 43
Proximal Myotonic Dystrophy 63 41 47
Ricker Syndrome 63 41 47
 
Myotonic Myopathy, Proximal 41 60
Ricker Disease 41 47
Dm2 63 41
Dystrophia Myotonica Type 2 41
Dystrophia Myotonica 2 60
Pdm 63


Classifications:



Characteristics (Orphanet epidemiological data):

47
myotonic dystrophy type 2:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: elderly


External Ids:

OMIM45 602668
Disease Ontology9 DOID:0050759
MeSH33 D020967
Orphanet47 606
ICD10 via Orphanet26 G71.1
UMLS via Orphanet61 C0752354
MESH via Orphanet34 D020967

Related Diseases for Myotonic Dystrophy 2

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Diseases in the Myotonic Dystrophy family:

myotonic dystrophy 2 Myotonic Dystrophy 1

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1myotonic dystrophy30.5CNBP, CELF1
2restless legs syndrome10.5
3myopathy10.4
4sleep disorder10.4
5talipes equinovarus10.4
6ataxia10.4
7myotonia10.4
8multiple system atrophy10.3
9multiple myeloma10.3
10dilated cardiomyopathy10.3
11myasthenia gravis10.3
12cerebritis10.3
13myeloma10.3
14neuropathy10.3
15peripheral neuropathy10.3
16progressive myoclonus epilepsy10.3
17spinocerebellar ataxia10.3
18myoclonus epilepsy10.3
19dysphagia10.3
20myoclonus10.3
21fibromyalgia10.3
22blindness10.3
23schizophrenia10.2
24cataract10.2
25malignant hyperthermia10.2
26progressive muscular atrophy10.2
27muscular atrophy10.2
28hypogonadism10.2
29muscular dystrophy10.2
30influenza10.1
31swallowing disorders10.1
32myotonic dystrophy 110.0

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



Diseases related to myotonic dystrophy 2

Symptoms for Myotonic Dystrophy 2

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Symptoms by clinical synopsis from OMIM:

602668

Clinical features from OMIM:

602668

Symptoms:

 47
  • cataract/lens opacification
  • myotonia
  • autosomal dominant inheritance

HPO human phenotypes related to Myotonic Dystrophy 2:

(show all 20)
id Description Frequency HPO Source Accession
1 cataract hallmark (90%) HP:0000518
2 myotonia hallmark (90%) HP:0002486
3 autosomal dominant inheritance HP:0000006
4 hypogonadism HP:0000135
5 oligospermia HP:0000798
6 diabetes mellitus HP:0000819
7 tachycardia HP:0001649
8 palpitations HP:0001962
9 frontal balding HP:0002292
10 myotonia HP:0002486
11 igm deficiency HP:0002850
12 elevated serum creatine phosphokinase HP:0003236
13 myalgia HP:0003326
14 type 2 muscle fiber atrophy HP:0003554
15 proximal muscle weakness HP:0003701
16 neck flexor weakness HP:0003722
17 igg deficiency HP:0004315
18 iridescent posterior subcapsular cataract HP:0007889
19 insulin insensitivity HP:0008189
20 elevated follicle stimulating hormone HP:0008232

Drugs & Therapeutics for Myotonic Dystrophy 2

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Drug clinical trials:

Search ClinicalTrials for Myotonic Dystrophy 2

Search NIH Clinical Center for Myotonic Dystrophy 2

Genetic Tests for Myotonic Dystrophy 2

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Genetic tests related to Myotonic Dystrophy 2:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 220 22 CNBP

Anatomical Context for Myotonic Dystrophy 2

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MalaCards organs/tissues related to Myotonic Dystrophy 2:

31
Eye, Heart, Smooth muscle, Pancreas

Animal Models for Myotonic Dystrophy 2 or affiliated genes

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Publications for Myotonic Dystrophy 2

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Articles related to Myotonic Dystrophy 2:

idTitleAuthorsYear
1
Clinical, electrophysiologic and pathologic findings in 10 patients with myotonic dystrophy 2. (22332444)
2011
2
Rational and modular design of potent ligands targeting the RNA that causes myotonic dystrophy 2. (19348464)
2009
3
Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. (19590039)
2009
4
Reduction of the rate of protein translation in patients with myotonic dystrophy 2. (19605641)
2009

Variations for Myotonic Dystrophy 2

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Clinvar genetic disease variations for Myotonic Dystrophy 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CNBPNM_003418.4: c.-14-833_-11-830(75_11000)NT expansionPathogenicrs387906559GRCh37Chr 3, 128891444: 128891447

Expression for genes affiliated with Myotonic Dystrophy 2

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Search GEO for disease gene expression data for Myotonic Dystrophy 2.

Pathways for genes affiliated with Myotonic Dystrophy 2

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Compounds for genes affiliated with Myotonic Dystrophy 2

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GO Terms for genes affiliated with Myotonic Dystrophy 2

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

idNameGO IDScoreTop Affiliating Genes
1ribonucleoprotein complexGO:00305299.0CELF1, PABPC1
2nucleusGO:00056348.0RBMY1A1, CNBP, CELF1, PABPC1

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

idNameGO IDScoreTop Affiliating Genes
1mRNA processingGO:00063979.1RBMY1A1, CELF1

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

idNameGO IDScoreTop Affiliating Genes
1mRNA bindingGO:00037298.8RBMY1A1, CELF1
2poly(A) RNA bindingGO:00448228.8CNBP, CELF1, PABPC1
3nucleotide bindingGO:00001668.4RBMY1A1, CELF1, PABPC1

Products for genes affiliated with Myotonic Dystrophy 2

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Sources for Myotonic Dystrophy 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet