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DM1
MCID: MYT006
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Myotonic Dystrophy Type 1 malady |
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31 genes, 5 tissues, 209 related diseases, 13 phenotypes, 51 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene. 30
MalaCards: Myotonic Dystrophy Type 1, also known as DM1, is related to myotonic dystrophy type 2 and congenital myotonic dystrophy. An important gene associated with Myotonic Dystrophy Type 1 is CELF1 (CUGBP, Elav-like family member 1), and among its related pathways are Platelet calcium homeostasis and Calcium Mediated T-Cell Apoptosis. The compounds sb 408124 and sb 334867 have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are integument and nervous system. GeneReviews summary for myotonic-d |
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Sources: 43UMLS, 15GeneReviews, 30NIH Rare Diseases, 44Wikipedia, 16GeneTests See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials See all sources |
Approved drugs:Search CenterWatch for myotonic dystrophy type 1 Drug clinical trials:Search ClinicalTrials for myotonic dystrophy type 1 Search NIH Clinical Center for myotonic dystrophy type 1 Search CenterWatch for myotonic dystrophy type 1 |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to myotonic dystrophy type 1:22Brain, Heart, Smooth muscle, Skeletal muscle, Pancreas
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to myotonic dystrophy type 1:25 (show all 13)
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Sources: 35PubMed See all sources |
Articles related to myotonic dystrophy type 1:(show top 50) (show all 51)
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 36QIAGEN, 20KEGG See all sources |
Pathways related to myotonic dystrophy type 1 according to GeneDecks:
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Sources: 42Tocris Bioscience, 32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB See all sources |
Compounds related to myotonic dystrophy type 1 according to GeneDecks:(show top 50) (show all 58)
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Sources: 12Gene Ontology See all sources |
Cellular components related to myotonic dystrophy type 1 according to GeneDecks:
Biological processes related to myotonic dystrophy type 1 according to GeneDecks:
Molecular functions related to myotonic dystrophy type 1 according to GeneDecks:
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