Myotonic Dystrophy 2 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Myotonic Dystrophy 2:
Orphanet epidemiological data:52
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
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare endocrine diseases
NIH Rare Diseases:46 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 muscle and growth/size/body region.
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.
OMIM:50 Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals... (602668) more...
UniProtKB/Swiss-Prot:68 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.
GeneReviews summary for NBK1466
HPO human phenotypes related to Myotonic Dystrophy 2:(show all 19)
UMLS symptoms related to Myotonic Dystrophy 2:myalgia
Drugs for Myotonic Dystrophy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 78)
Interventional clinical trials:(show top 50) (show all 100)
Search NIH Clinical Center for Myotonic Dystrophy 2
MalaCards organs/tissues related to Myotonic Dystrophy 2:34
Skeletal muscle, Heart, Eye, Smooth muscle, Pancreas, Endothelial, Brain
Articles related to Myotonic Dystrophy 2:
Search GEO for disease gene expression data for Myotonic Dystrophy 2.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet