Myotonic Dystrophy 2 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Myotonic Dystrophy 2:
Orphanet epidemiological data:53
myotonic dystrophy type 2:
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
myotonic dystrophy 2:
Inheritance: autosomal dominant inheritance
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%...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare endocrine diseases
NIH Rare Diseases:47 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 myotonia congenita, atypical, acetazolamide-responsive and non-dystrophic myotonic disorders, and has symptoms including cataract, myotonia and hypogonadism. An important gene associated with Myotonic Dystrophy 2 is CNBP (CCHC-Type Zinc Finger Nucleic Acid Binding Protein). Affiliated tissues include skeletal muscle, heart and eye, and related mouse phenotypes are growth/size/body region and muscle.
Disease Ontology:11 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.
UniProtKB/Swiss-Prot:69 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.
OMIM:51 Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals... (602668) more...
GeneReviews for NBK1466
Diseases in the Myotonic Dystrophy family:
Diseases related to Myotonic Dystrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of diseases related to Myotonic Dystrophy 2:
Human phenotypes related to Myotonic Dystrophy 2:63 53 (show all 18)
UMLS symptoms related to Myotonic Dystrophy 2:muscle cramp, muscle rigidity, muscle spasticity, spasm, muscle weakness, myalgia
Drugs for Myotonic Dystrophy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 212)
Interventional clinical trials:(show top 50) (show all 104)
Search NIH Clinical Center for Myotonic Dystrophy 2
MalaCards organs/tissues related to Myotonic Dystrophy 2:35
Skeletal muscle, Heart, Eye, Smooth muscle, Pancreas, Endothelial, Liver
Articles related to Myotonic Dystrophy 2:
Search GEO for disease gene expression data for Myotonic Dystrophy 2.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet