Myotonic Dystrophy Type 1 (DM1) malady

Neuronal, Eye categories

Summaries for Myotonic Dystrophy Type 1

43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 5/11/2011

MalaCards: Myotonic Dystrophy Type 1, also known as steinert myotonic dystrophy, is related to sleep disorder and myotonic dystrophy type 2, and has symptoms including hypertonia/spasticity/rigidity/stiffness, intellectual deficit/mental/psychomotor retardation/learning disability and facial palsy. An important gene associated with Myotonic Dystrophy Type 1 is DMPK (dystrophia myotonica-protein kinase), and among its related pathways are calcium transport I and Nitric oxide stimulates guanylate cyclase. The compounds 1-(2-bromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea and act-078573 have been mentioned in the context of this disorder. Affiliated tissues include heart and pancreas, and related mouse phenotype muscle.

Description from OMIM:47 160900

GeneReviews summary for myotonic-d

Aliases & Classifications for Myotonic Dystrophy Type 1

64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
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Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye

Characteristics (Orphanet epidemiological data):

myotonic dystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age

Aliases & Descriptions:

myotonic dystrophy type 1 64 19 43 20 49
steinert myotonic dystrophy 43 22 49
dm1 64 43 49
steinert's disease 19 43
steinert disease 43 49
dystrophia myotonica type 1 43
major affective disorder 1 61
dystrophia myotonica 1 61
myotonic dystrophy 1 47
myotonic dystrophy 61
md1 49

External Ids:

ICD10 via Orphanet26 G71.1
SNOMED-CT via Orphanet58 77956009
UMLS via Orphanet62 C2931688
OMIM47 160900
MESH via Orphanet36 C538008

Related Diseases for Myotonic Dystrophy Type 1

17GeneCards, 18GeneDecks
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Diseases in the Myotonic Dystrophy Type 1 family:

myotonic dystrophy type 2 myotonic dystrophy
congenital myotonic dystrophy

Diseases related to Myotonic Dystrophy Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1sleep disorder30.7HCRTR2, HCRTR1, HCRT
2myotonic dystrophy type 230.3CLCN1, CNBP, DMPK
3thomsen disease30.3CNBP, CLCN1
4congenital myotonic dystrophy10.6
6insulin resistance10.5
9machado-joseph disease10.4
10huntington's disease10.4
11macular holes10.4
12duchenne muscular dystrophy10.4
13muscular atrophy10.4
14myotonic cataract10.4
15spinal muscular atrophy10.4
16spinocerebellar ataxia10.4
18type c thymoma10.4
19macular dystrophy10.4
21major affective disorder 110.3
22talipes equinovarus10.3
23laryngeal small cell carcinoma10.2
24lateral sclerosis10.2
26friedreich ataxia10.2
27brugada syndrome10.2
28small cell carcinoma10.2
29becker muscular dystrophy10.2
30systolic heart failure10.2
35amyotrophic lateral sclerosis10.2
36basal cell carcinoma10.2
38spinal-bulbar muscular atrophy10.2
39basal cell carcinoma, multiple10.2
40left ventricular noncompaction10.2
41intermediate charcot-marie-tooth neuropathy10.2
43foot drop10.2
45renal cell carcinoma, somatic10.2
46newcastle disease10.2
47asperger syndrome10.2
48glucose intolerance10.2
49limb-girdle muscular dystrophy10.2
50hypertrophic cardiomyopathy10.2

Graphical network of the top 20 diseases related to Myotonic Dystrophy Type 1:

Diseases related to myotonic dystrophy type 1

Clinical Features for Myotonic Dystrophy Type 1

47OMIM, 49Orphanet
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Clinical features from OMIM:


Clinical synopsis from OMIM:



49 (show all 23)
  • hypertonia/spasticity/rigidity/stiffness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • facial palsy
  • autosomal dominant inheritance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hydrocephaly
  • hypotonia
  • cataract/lens opacification
  • inguinal/inguinoscrotal/crural hernia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal emg/electromyogram/electropmyography
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • myotonia
  • congenital cardiac anomaly/malformation/cardiopathy
  • strabismus/squint
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • expressionless face/amimia
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • anomalies of the endocrine glands
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • megaureter/hydronephrosis/pyeloureteral junction syndrome

Drugs & Therapeutics for Myotonic Dystrophy Type 1

5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Myotonic Dystrophy Type 1

Search CenterWatch for Myotonic Dystrophy Type 1

Genetic Tests for Myotonic Dystrophy Type 1

20GeneTests, 22GTR
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Genetic tests related to Myotonic Dystrophy Type 1:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 120 DMPK
2 Steinert Myotonic Dystrophy Syndrome22

Anatomical Context for Myotonic Dystrophy Type 1

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MalaCards organs/tissues related to Myotonic Dystrophy Type 1:

Heart, Pancreas

Animal Models for Myotonic Dystrophy Type 1 or affiliated genes

37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Myotonic Dystrophy Type 1:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1SIX5, DMPK, ATP2A3, ATP2A2, ATP2A1, HCRT

Publications for Myotonic Dystrophy Type 1

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Articles related to Myotonic Dystrophy Type 1:

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. (21543227)

Genetic Variations for Myotonic Dystrophy Type 1

Expression for genes affiliated with Myotonic Dystrophy Type 1

1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myotonic Dystrophy Type 1

Search GEO for disease gene expression data for Myotonic Dystrophy Type 1.

Pathways for genes affiliated with Myotonic Dystrophy Type 1

38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN, 50PharmGKB, 12EMD Millipore
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Compounds for genes affiliated with Myotonic Dystrophy Type 1

29IUPHAR, 60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
11-(2-bromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea2910.5HCRTR2, HCRTR1
2act-0785732910.5HCRTR1, HCRTR2
31-(2,4-dibromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea2910.5HCRTR1, HCRTR2
4[3h]sb-6740422910.5HCRTR2, HCRTR1
5sb-3348672910.5HCRTR2, HCRTR1
6sb-4081242910.5HCRTR2, HCRTR1
7sb-6498682910.5HCRTR1, HCRTR2
8orexin-b2910.5HCRTR2, HCRTR1
9orexin-a2910.5HCRTR2, HCRTR1
10bhq6010.5ATP2A1, ATP2A2, ATP2A3
11[ala11, d-leu15]orexin-b2910.4HCRTR2, HCRTR1
12artemisinin45 6011.4ATP2A3, ATP2A2, ATP2A1
13ochratoxin a45 6011.4ATP2A3, ATP2A2, ATP2A1
14mk-60962910.4HCRTR2, HCRTR1
15suvorexant2910.4HCRTR2, HCRTR1
16ruthenium4510.4HSPA5, ATP2A3, RYR1
17cyclopiazonic acid45 6011.3ATP2A3, ATP2A2, ATP2A1, RYR1
18ryanodine45 29 6012.3RYR1, ATP2A2, ATP2A3, DMPK
19p-mca4510.2RYR1, ATP2A3
20niflumic acid45 29 1112.2RYR1, CLCN1
21halothane45 29 1112.2RYR1, ATP2A1, HSPA5
22dantrolene45 29 1112.1RYR1, ATP2A3
23inositol 1,4,5 trisphosphate4510.1ATP2A3, ATP2A2, HCRTR1, RYR1
24ribonucleic acid4510.0ATP2A2, HCRT, HCRTR1, HCRTR2
25acetylcholine45 50 29 11 2413.9RYR1, HCRTR2, HCRTR1, HCRT, DMPK, KCNN1
26potassium45 11 2411.9KCNN1, ATP2A3, HCRT, HCRTR1, RYR1
27thapsigargin45 6010.9RYR1, HCRTR1, HCRT, ATP2A1, ATP2A2, ATP2A3
28magnesium45 11 2411.8HSPA5, DMPK, ATP2A3, ATP2A2, ATP2A1, RYR1
29atp45 2910.6HSPA5, KCNN1, DMPK, ATP2A3, ATP2A1, HCRT
30glucose459.6HSPA5, DMPK, ATP2A3, HCRT, HCRTR1, RYR1
31norepinephrine45 11 2411.6ATP2A2, HCRT, HCRTR2, RYR1
32calcium45 50 11 2412.3HSPA5, KCNN1, DMPK, ATP2A3, ATP2A2, ATP2A1

GO Terms for genes affiliated with Myotonic Dystrophy Type 1

16Gene Ontology
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Cellular components related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1I bandGO:03167410.2RYR1, ATP2A1
2platelet dense tubular network membraneGO:03109510.0ATP2A3, ATP2A2, ATP2A1
3sarcoplasmic reticulumGO:0165299.9ATP2A3, ATP2A2, ATP2A1, RYR1
4sarcoplasmic reticulum membraneGO:0330179.9RYR1, ATP2A1, ATP2A2, ATP2A3, DMPK
5endoplasmic reticulum membraneGO:0057899.5ATP2A1, ATP2A2, ATP2A3, DMPK, HSPA5

Biological processes related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1mRNA splice site selectionGO:00637610.2MBNL1, CELF1
2calcium ion transportGO:00681610.2RYR1, ATP2A1, ATP2A3
3muscle contractionGO:00693610.0RYR1, CLCN1, MYOM1
4neuropeptide signaling pathwayGO:0072189.9HCRT, HCRTR1, HCRTR2
5ion transmembrane transportGO:0342209.9RYR1, CLCN1, ATP2A1, ATP2A2, ATP2A3
6transmembrane transportGO:0550859.9ATP2A3, ATP2A2, ATP2A1, CLCN1, RYR1
7regulation of RNA splicingGO:0434849.9CELF1, MBNL1
8synaptic transmissionGO:0072689.8HCRTR2, HCRTR1, HCRT, KCNN1

Molecular functions related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone bindingGO:01704610.2HCRTR2, HCRTR1
2calcium-transporting ATPase activityGO:00538810.0ATP2A1, ATP2A2, ATP2A3
3orexin receptor activityGO:0164999.9HCRTR2, HCRTR1

Products for genes affiliated with Myotonic Dystrophy Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myotonic Dystrophy Type 1

26ICD10 via Orphanet
36MESH via Orphanet
48OMIM via Orphanet
58SNOMED-CT via Orphanet
62UMLS via Orphanet