MCID: DST004
MIFTS: 38

Distal Muscular Dystrophy malady

Muscle diseases category
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Summaries for Distal Muscular Dystrophy

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Wikipedia:65 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... more...

MalaCards based summary: Distal Muscular Dystrophy, also known as distal muscular dystrophies, is related to muscular dystrophy and miyoshi myopathy, and has symptoms including 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.

Descriptions from OMIM:46 613319,254130,606768

Aliases & Classifications for Distal Muscular Dystrophy

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 46OMIM, 39NCIt, 34MeSH, 57SNOMED-CT
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Distal Muscular Dystrophy, Aliases & Descriptions:

Name: Distal Muscular Dystrophy 8 10 44
Distal Muscular Dystrophies 62
Muscular Dystrophy, Distal 8
 
Miyoshi Muscular Dystrophy 8
Distal Myopathies 44
Distal Myopathy 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:11720
SNOMED-CT57 58795000
NCIt39 C84675
MeSH34 D049310

Related Diseases for Distal Muscular Dystrophy

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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 58)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.5DYSF, CHKB, DMD
2miyoshi myopathy31.0DYSF, CHKB
3miyoshi muscular dystrophy 130.7DYSF
4myopathy30.5DMD, CHKB, DYSF
5limb-girdle muscular dystrophy, type 2b30.4DYSF, DMD
6calpainopathy30.4DMD, DYSF
7limb-girdle muscular dystrophy30.4DMD, DYSF
8myositis30.3CHKB, DMD, DYSF
9miyoshi muscular dystrophy 310.7
10welander distal myopathy, swedish type10.6
11miyoshi muscular dystrophy 210.5
12cav3-related distal myopathy10.5
13inclusion body myositis10.5
14gas gangrene10.4DMD
15dystrophinopathies10.4DMD
16udd distal myopathy10.4
17muscular dystrophy-dystroglycanopathy , type c, 510.3DYSF, CHKB
18finnish upper limb-onset distal myopathy10.3
19limb-girdle muscular dystrophy, type 2g10.3DMD, DYSF
20limb-girdle muscular dystrophy type 2f10.3DMD, DYSF
21becker muscular dystrophy10.3DMD, DYSF
22distal myopathy with early respiratory muscle involvement10.3
23myocarditis10.2DMD, CHKB
24duchenne muscular dystrophy10.2DMD, CHKB
25myopathy congenital10.2CHKB, DMD, DYSF
26neuromuscular disease10.2DMD, CHKB, DYSF
27polymyositis10.2DYSF, CHKB, DMD
28dysferlinopathy10.2
29laing distal myopathy10.2
30distal myopathy markesbery-griggs type10.2
31distal myopathy with vocal cord weakness10.2
32distal myopathy 410.2
33dermatomyositis10.2DMD, CHKB
34dilated cardiomyopathy10.2CHKB, DMD
35pharyngitis10.2
36oculopharyngeal muscular dystrophy10.2
37amyotrophic lateral sclerosis type 2110.2
38gne-related myopathy10.2
39adult-onset distal myopathy due to vcp mutation10.2
40alpha-b crystallin-related late-onset distal myopathy10.2
41klhl9-related childhood-onset distal myopathy10.2
42nebulin-related early-onset distal myopathy10.2
43oculopharyngodistal myopathy10.2
44amyotrophic lateral sclerosis type 1410.2CHKB, NGFR
45noonan syndrome10.1DMD, CHKB, DYSF
46myotonic dystrophy10.1CHKB, DMD
47cystinosis10.0
48nemaline myopathy10.0
49atrioventricular block10.0
50respiratory failure10.0

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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Clinical features from OMIM:

613319,254130,606768

HPO human phenotypes related to Distal Muscular Dystrophy:

id Description Frequency HPO Source Accession
1 myopathy typical (50%) HP:0003198

Drugs & Therapeutics for Distal Muscular Dystrophy

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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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MGI Mouse Phenotypes related to Distal Muscular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9DYSF, CHKB, NGFR, DMD

Publications for Distal Muscular Dystrophy

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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
Characteristic form of standing up from squatting in Miyoshi's distal muscular dystrophy. (10622454)
1999
9
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. (9673985)
1998
10
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. (9397016)
1997
11
Distal muscular dystrophy. Case reports. (9208214)
1997
12
Autosomal recessive distal muscular dystrophy. (9412850)
1997
13
Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature. (9007741)
1997
14
Early onset distal muscular dystrophy. (7573762)
1995
15
Two patients with distal muscular dystrophy and autonomic nerve dysfunction. (8059932)
1994
16
Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. (7836950)
1994
17
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. (3942856)
1986
18
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. (3985587)
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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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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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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Compounds related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1succinate449.8CHKB, DMD
2(r)-(+)-blebbistatin619.7MYH3, MYH8
3hematoxylin449.6NGFR, DMD
4bts619.6MYH3, MYH8
5(s)-(-)-blebbistatin619.6MYH3, MYH8
6(+-)-blebbistatin619.6MYH3, MYH8
7peroxynitrite449.5NGFR, CHKB
8polyacrylamide449.5CHKB, NGFR, DMD
9leucine449.3CHKB, NGFR, DMD
10creatinine449.1DYSF, CHKB, DMD
11calcium44 50 24 1111.6DMD, NGFR, CHKB, ANO5, DYSF

GO Terms for genes affiliated with Distal Muscular Dystrophy

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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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Sources for Distal Muscular Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet