MCID: MYT021
MIFTS: 47

Myotonic Dystrophy 1 malady

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

Aliases & Classifications for Myotonic Dystrophy 1

About this section
Sources:
60UMLS, 45OMIM, 10diseasecard, 9Disease Ontology, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 43Novoseek, 27ICD9CM, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Myotonic Dystrophy 1, Aliases & Descriptions:

Name: Myotonic Dystrophy 1 45 10
Myotonic Dystrophy Type 1 9 63 19 41 20 47
Congenital Myotonic Dystrophy 9 41 60
Steinert Disease 9 41 47
Dm1 63 41 47
Steinert Myotonic Dystrophy 41 47
Steinert's Disease 19 41
Md1 41 47
 
Myotonic Dystrophy of Steinert 9
Myotonic Dystrophy Congenital 43
Dystrophia Myotonica Type 1 41
Major Affective Disorder 1 60
Dystrophia Myotonica 1 60
Dystrophia Myotonica 9
Myotonic Dystrophy 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
myotonic dystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adult,Neonatal; Age of death: any age


External Ids:

OMIM45 160900
Disease Ontology9 DOID:11722
ICD9CM27 359.22
MeSH33 D009223
NCIt38 C84914
Orphanet47 273
MESH via Orphanet34 C538008
ICD10 via Orphanet26 G71.1
UMLS via Orphanet61 C2931688

Summaries for Myotonic Dystrophy 1

About this section


OMIM:45 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts,... (160900) more...

MalaCards based summary: Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy and muscular dystrophy, and has symptoms including mask-like facies, hypertonia and myotonia. An important gene associated with Myotonic Dystrophy 1 is DMPK (dystrophia myotonica-protein kinase), and among its related pathways are AGE/RAGE pathway and Long-term depression. The compounds hispidin and ly333531 have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and smooth muscle.

Disease Ontology:9 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has physical basis in the autosomal dominant inheritance of the dmpk gene containing an expansion of a ctg trinucleotide repeat in the non-coding region.

NIH Rare Diseases:41 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

GeneReviews summary for myotonic-d

Related Diseases for Myotonic Dystrophy 1

About this section

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



Diseases related to myotonic dystrophy 1

Symptoms for Myotonic Dystrophy 1

About this section

Symptoms by clinical synopsis from OMIM:

160900

Clinical features from OMIM:

160900

Symptoms:

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

HPO human phenotypes related to Myotonic Dystrophy 1:

(show all 44)
id Description Frequency HPO Source Accession
1 mask-like facies hallmark (90%) HP:0000298
2 hypertonia hallmark (90%) HP:0001276
3 myotonia hallmark (90%) HP:0002486
4 amyotrophy hallmark (90%) HP:0003202
5 emg abnormality hallmark (90%) HP:0003457
6 arrhythmia hallmark (90%) HP:0011675
7 cataract typical (50%) HP:0000518
8 abnormality of the endocrine system typical (50%) HP:0000818
9 muscular hypotonia typical (50%) HP:0001252
10 respiratory insufficiency typical (50%) HP:0002093
11 malformation of the heart and great vessels typical (50%) HP:0002564
12 facial palsy typical (50%) HP:0010628
13 cognitive impairment typical (50%) HP:0100543
14 cryptorchidism occasional (7.5%) HP:0000028
15 hydrocephalus occasional (7.5%) HP:0000238
16 strabismus occasional (7.5%) HP:0000486
17 abnormality of the hip bone occasional (7.5%) HP:0003272
18 hernia of the abdominal wall occasional (7.5%) HP:0004299
19 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
20 abnormal hair quantity occasional (7.5%) HP:0011362
21 non-midline cleft lip occasional (7.5%) HP:0100335
22 atrial flutter 4% HP:0004749
23 atrial fibrillation very rare (1%) HP:0005110
24 autosomal dominant inheritance HP:0000006
25 testicular atrophy HP:0000029
26 hypogonadism HP:0000135
27 cataract HP:0000518
28 cholelithiasis HP:0001081
29 muscular hypotonia HP:0001252
30 muscle weakness HP:0001324
31 facial diplegia HP:0001349
32 decreased fetal movement HP:0001558
33 polyhydramnios HP:0001561
34 dysphagia HP:0002015
35 cerebral atrophy HP:0002059
36 respiratory distress HP:0002098
37 excessive daytime sleepiness HP:0002189
38 frontal balding HP:0002292
39 myotonia HP:0002486
40 intellectual disability, progressive HP:0006887
41 obsessive-compulsive trait HP:0008770
42 feeding difficulties in infancy HP:0008872
43 intellectual disability, severe HP:0010864
44 first degree atrioventricular block HP:0011705

Drugs & Therapeutics for Myotonic Dystrophy 1

About this section

Drug clinical trials:

Search ClinicalTrials for Myotonic Dystrophy 1

Search NIH Clinical Center for Myotonic Dystrophy 1

Genetic Tests for Myotonic Dystrophy 1

About this section

Genetic tests related to Myotonic Dystrophy 1:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 120 DMPK

Anatomical Context for Myotonic Dystrophy 1

About this section

MalaCards organs/tissues related to Myotonic Dystrophy 1:

31
Heart, Eye, Smooth muscle, Pancreas, Testes, Bone, Lung, Brain, Skeletal muscle

Animal Models for Myotonic Dystrophy 1 or affiliated genes

About this section

Publications for Myotonic Dystrophy 1

About this section

Articles related to Myotonic Dystrophy 1:

(show all 16)
idTitleAuthorsYear
1
Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1. (23890854)
2013
2
Beneficial effect of digitoxin for heart failure from noncompaction in myotonic dystrophy 1. (22475848)
2012
3
A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryo transfer. (23011730)
2012
4
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. (22131273)
2011
5
Implantable loop recorders in myotonic dystrophy 1. (21880381)
2011
6
Gastroparesis in myotonic dystrophy 1. (21125412)
2011
7
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. (20479119)
2010
8
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. (20220122)
2010
9
Pneumosinus dilatans and hypercalcification of the falx and ligamentum petroclinoideum in myotonic dystrophy 1. (20220451)
2010
10
New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction. (19715468)
2009
11
Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. (17549748)
2008
12
Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. (18583094)
2008
13
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. (17936705)
2007
14
Altered expression of CUG binding protein 1 mRNA in myotonic dystrophy 1: possible RNA-RNA interaction. (15099703)
2004
15
Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. (11527424)
2001
16
Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration. (10748037)
2000

Variations for Myotonic Dystrophy 1

About this section

Clinvar genetic disease variations for Myotonic Dystrophy 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1DMPKNM_001081560.2: c.*224_*226CTG(51_?)NT expansionPathogenicGRCh37Chr 19, 46273463: 46273522
2DMPKNM_001081563.1: c.*224_226CTG(50-?)undetermined variantPathogenic

Expression for genes affiliated with Myotonic Dystrophy 1

About this section
Search GEO for disease gene expression data for Myotonic Dystrophy 1.

Pathways for genes affiliated with Myotonic Dystrophy 1

About this section

Pathways related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4PRKCA, PRKCB
29.4PRKCB, PRKCA
3
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades58
9.4PRKCB, PRKCA
4
Show member pathways
9.4PRKCB, PRKCA
5
Show member pathways
TCR signaling in naive CD8+ T cells36
9.4PRKCB, PRKCA
6
Show member pathways
9.4PRKCB, PRKCA
79.4PRKCB, PRKCA
89.4PRKCB, PRKCA
9
Show member pathways
Ras signaling in the CD4+ TCR pathway36
9.4PRKCA, PRKCB
109.4PRKCB, PRKCA
119.4PRKCB, PRKCA
12
Show member pathways
9.4PRKCB, PRKCA
139.4PRKCA, PRKCB
149.4PRKCB, PRKCA
159.4PRKCB, PRKCA
169.4PRKCB, PRKCA
179.4PRKCB, PRKCA

Compounds for genes affiliated with Myotonic Dystrophy 1

About this section
Sources:
43Novoseek, 59Tocris Bioscience
See all sources

Compounds related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1hispidin439.6PRKCB, PRKCA
2ly333531439.6PRKCB, PRKCA
3bryostatin 1439.6PRKCB, PRKCA
4go 697643 5910.5PRKCA, PRKCB
5chelerythrine439.5PRKCA, PRKCB
6bisindolylmaleimide439.4PRKCB, PRKCA
7rottlerin439.4PRKCB, PRKCA
8pkcs439.3PRKCA, PRKCB
9c2ceramide439.1PRKCB, PRKCA

GO Terms for genes affiliated with Myotonic Dystrophy 1

About this section

Cellular components related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear outer membraneGO:00056409.6DHCR7, DMPK

Biological processes related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone H3-T6 phosphorylationGO:00354089.5PRKCB, PRKCA
2cellular response to carbohydrate stimulusGO:00713229.4PRKCB, PRKCA
3negative regulation of insulin receptor signaling pathwayGO:00466279.1PRKCB, PRKCA
4protein phosphorylationGO:00064689.0PRKCB, PRKCA, DMPK
5cellular calcium ion homeostasisGO:00068748.9DMPK, PRKCA, PRKCB

Molecular functions related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase C activityGO:00046979.4PRKCB, PRKCA
2histone kinase activity (H3-T6 specific)GO:00354039.1PRKCB, PRKCA

Products for genes affiliated with Myotonic Dystrophy 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myotonic Dystrophy 1

About this section
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