MCID: DST004
MIFTS: 38

Distal Muscular Dystrophy malady

Neuronal diseases, Muscle diseases categories
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Summaries for Distal Muscular Dystrophy

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... more...

MalaCards: Distal Muscular Dystrophy, also known as distal muscular dystrophies, is related to muscular dystrophy and miyoshi muscular dystrophy 1. An important gene associated with Distal Muscular Dystrophy is CHKB (choline kinase beta), and among its related pathways are Striated Muscle Contraction and Cell adhesion Integrin mediated cell adhesion and migration. The compounds succinate and (r)-(+)-blebbistatin have been mentioned in the context of this disorder. Related mouse phenotype muscle.

Description from OMIM:47 254130,613319,606768

Aliases & Classifications for Distal Muscular Dystrophy

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Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 35MeSH, 58SNOMED-CT, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Muscle diseases


Aliases & Descriptions:

distal muscular dystrophy 8 10 45
distal muscular dystrophies 62
muscular dystrophy, distal 8
miyoshi muscular dystrophy 8
distal myopathies 45
distal myopathy 8


External Ids:

Disease Ontology8 DOID:11720
SNOMED-CT58 58795000
MeSH35 D049310
NCIt40 C84675

Related Diseases for Distal Muscular Dystrophy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Distal Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.3DYSF, CHKB, DMD
2miyoshi muscular dystrophy 131.1DYSF
3miyoshi myopathy30.6CHKB, DYSF
4myopathy30.3DYSF, CHKB, DMD
5limb-girdle muscular dystrophy, type 2b30.1DYSF, DMD
6calpainopathy30.1DYSF, DMD
7limb-girdle muscular dystrophy30.1DMD, DYSF
8myositis30.1DMD, CHKB, DYSF
9miyoshi muscular dystrophy 310.6
10welander distal myopathy, swedish type10.6
11miyoshi muscular dystrophy 210.5
12inclusion body myositis10.5
13cav3-related distal myopathy10.4
14udd distal myopathy10.3
15distal anoctaminopathy10.3
16finnish upper limb-onset distal myopathy10.2
17distal myopathy with early respiratory muscle involvement10.2
18dysferlinopathy10.2
19laing distal myopathy10.2
20distal myopathy markesbery-griggs type10.2
21distal myopathy with vocal cord weakness10.2
22distal myopathy 410.2
23pharyngitis10.1
24oculopharyngeal muscular dystrophy10.1
25adult-onset distal myopathy due to vcp mutation10.1
26alpha-b crystallin-related late-onset distal myopathy10.1
27klhl9-related childhood-onset distal myopathy10.1
28nebulin-related early-onset distal myopathy10.1
29oculopharyngodistal myopathy10.1
30gas gangrene10.1DMD
31dystrophinopathies10.1DMD
32muscular dystrophy-dystroglycanopathy , type c, 510.1DYSF, CHKB
33limb-girdle muscular dystrophy, type 2g10.1DMD, DYSF
34limb-girdle muscular dystrophy type 2f10.1DYSF, DMD
35becker muscular dystrophy10.1DMD, DYSF
36myocarditis10.1DMD, CHKB
37protein s deficiency10.0DYSF, DMD
38duchenne muscular dystrophy10.0CHKB, DMD
39myopathy congenital10.0DYSF, CHKB, DMD
40neuromuscular disease10.0DMD, CHKB, DYSF
41polymyositis10.0DYSF, CHKB, DMD
42dermatomyositis10.0DMD, CHKB
43dilated cardiomyopathy10.0CHKB, DMD
44amyotrophic lateral sclerosis10.0CHKB, NGFR
45noonan syndrome10.0DMD, CHKB, DYSF
46myotonic dystrophy10.0DMD, CHKB
47atrioventricular block10.0
48cystinosis10.0
49nemaline myopathy10.0
50restrictive cardiomyopathy10.0

Graphical network of the top 20 diseases related to Distal Muscular Dystrophy:



Diseases related to distal muscular dystrophy

Symptoms for Distal Muscular Dystrophy

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47OMIM
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Clinical features from OMIM:

254130,613319,606768

Drugs & Therapeutics for Distal Muscular Dystrophy

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Distal Muscular Dystrophy

Search NIH Clinical Center for Distal Muscular Dystrophy

Genetic Tests for Distal Muscular Dystrophy

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Anatomical Context for Distal Muscular Dystrophy

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Animal Models for Distal Muscular Dystrophy or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Distal Muscular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9DYSF, CHKB, NGFR, DMD

Publications for Distal Muscular Dystrophy

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52PubMed
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Articles related to Distal Muscular Dystrophy:

(show all 20)
idTitleAuthorsYear
1
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. (23530687)
2013
2
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. (22980764)
2012
3
Early onset distal muscular dystrophy with normal dysferlin expression. (16310593)
2005
4
A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers]. (15568488)
2004
5
Late-onset distal muscular dystrophy affecting the posterior calves. (14506716)
2003
6
Distal muscular dystrophy of the Miyoshi type. (12908758)
2003
7
An autosomal dominant early adult-onset distal muscular dystrophy. (11102913)
2000
8
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. (9673985)
1998
9
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. (9397016)
1997
10
Distal muscular dystrophy. Case reports. (9208214)
1997
11
Autosomal recessive distal muscular dystrophy. (9412850)
1997
12
Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature. (9007741)
1997
13
Early onset distal muscular dystrophy. (7573762)
1995
14
Two patients with distal muscular dystrophy and autonomic nerve dysfunction. (8059932)
1994
15
Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. (7836950)
1994
16
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. (3942856)
1986
17
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. (3985587)
1985
18
Distal muscular dystrophy. (4058478)
1985
19
Distal muscular dystrophy with autosomal recessive inheritance. (6543900)
1984
20
Distal muscular dystrophy in an English family. (5552164)
1971

Variations for Distal Muscular Dystrophy

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Expression for genes affiliated with Distal Muscular Dystrophy

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Distal Muscular Dystrophy

Search GEO for disease gene expression data for Distal Muscular Dystrophy.

Pathways for genes affiliated with Distal Muscular Dystrophy

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 53QIAGEN
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Pathways related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MYH8, MYH3, DMD
2
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
8.9MYH8, MYH3, NGFR
3
Show member pathways
8.9MYH8, MYH3, NGFR

Compounds for genes affiliated with Distal Muscular Dystrophy

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Sources:
45Novoseek, 61Tocris Bioscience, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1succinate459.8CHKB, DMD
2(r)-(+)-blebbistatin619.7MYH3, MYH8
3hematoxylin459.6NGFR, DMD
4bts619.6MYH3, MYH8
5(s)-(-)-blebbistatin619.6MYH3, MYH8
6(+-)-blebbistatin619.6MYH3, MYH8
7peroxynitrite459.5NGFR, CHKB
8polyacrylamide459.5CHKB, NGFR, DMD
9leucine459.3CHKB, NGFR, DMD
10creatinine459.1DYSF, CHKB, DMD
11calcium45 51 24 1111.6DMD, NGFR, CHKB, ANO5, DYSF

GO Terms for genes affiliated with Distal Muscular Dystrophy

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16Gene Ontology
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Cellular components related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:0423839.8DYSF, DMD
2muscle myosin complexGO:0058599.5MYH8, MYH3
3myosin filamentGO:0329829.4MYH8, MYH3
4sarcomereGO:0300179.3MYH8, MYH3
5cytosolGO:0058297.9DMD, NGFR, MYH3, MYH8, CHKB

Biological processes related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.5MYH3, DMD
2skeletal muscle contractionGO:0030099.1MYH8, MYH3
3muscle filament slidingGO:0300499.0MYH8, MYH3, DMD

Molecular functions related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.7MYH8, DMD
2microfilament motor activityGO:0001469.1MYH8, MYH3

Products for genes affiliated with Distal Muscular Dystrophy

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  • Antibodies
  • Proteins
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Sources for Distal Muscular Dystrophy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet