MCID: DST004
MIFTS: 32

Distal Muscular Dystrophy malady

Muscle diseases category

Aliases & Classifications for Distal Muscular Dystrophy

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH
See all sources

Distal Muscular Dystrophy, Aliases & Descriptions:

Name: Distal Muscular Dystrophy 9 11 43
Distal Muscular Dystrophies 60
Miyoshi Muscular Dystrophy 9
 
Distal Myopathies 43
Distal Myopathy 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:11720
NCIt38 C84675
SNOMED-CT55 58795000
MeSH33 D049310

Summaries for Distal Muscular Dystrophy

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Wikipedia:63 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 muscular dystrophy 1, and has symptoms including myopathy 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 bts have been mentioned in the context of this disorder. Related mouse phenotype muscle.

Related Diseases for Distal Muscular Dystrophy

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Diseases related to Distal Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.4DYSF, CHKB, DMD
2miyoshi muscular dystrophy 130.7CHKB, DYSF
3myositis30.5DMD, CHKB, DYSF
4myopathy30.5DYSF, CHKB, DMD
5calpainopathy30.4DYSF, DMD
6limb-girdle muscular dystrophy30.3DMD, DYSF
7laing distal myopathy10.8
8miyoshi muscular dystrophy 310.7
9miyoshi muscular dystrophy 210.6
10welander distal myopathy, swedish type10.6
11cav3-related distal myopathy10.6
12distal myopathy with vocal cord weakness10.5
13welander distal myopathy10.5
14inclusion body myositis10.5
15distal anoctaminopathy10.4
16distal myopathy markesbery-griggs type10.4
17gas gangrene10.4DMD
18dystrophinopathies10.4DMD
19udd distal myopathy10.4
20autosomal recessive limb-girdle muscular dystrophy type 2i10.3DYSF, CHKB
21finnish upper limb-onset distal myopathy10.3
22muscular dystrophy, limb-girdle, type 2g10.3DMD, DYSF
23muscular dystrophy, limb-girdle, type 2f10.3DYSF, DMD
24muscular dystrophy, limb-girdle, type 2b10.3DYSF, DMD
25becker muscular dystrophy10.3DMD, DYSF
26adult-onset distal myopathy due to vcp mutation10.2
27alpha-b crystallin-related late-onset distal myopathy10.2
28klhl9-related childhood-onset distal myopathy10.2
29nebulin-related early-onset distal myopathy10.2
30distal myopathy with posterior leg and anterior hand involvement10.2
31distal myopathy with early respiratory muscle involvement10.2
32late-onset distal myopathy, markesbery-griggs type10.2
33myocarditis10.2DMD, CHKB
34duchenne muscular dystrophy10.2CHKB, DMD
35myopathy congenital10.2DYSF, CHKB, DMD
36neuromuscular disease10.2DMD, CHKB, DYSF
37polymyositis10.2DYSF, CHKB, DMD
38dermatomyositis10.2DMD, CHKB
39dilated cardiomyopathy10.2CHKB, DMD
40myopathy, distal, with anterior tibial onset10.2
41oculopharyngeal muscular dystrophy10.2
42pharyngitis10.2
43oculopharyngodistal myopathy10.2
44amyotrophic lateral sclerosis 110.1CHKB, NGFR
45dysferlinopathy10.1
46noonan syndrome 110.1DMD, CHKB, DYSF
47myotonic dystrophy10.1DMD, CHKB
48rippling muscle disease10.0
49myopathy, distal, 410.0
50cystinosis10.0

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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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:

35
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 21)
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. (4058478)
1985
20
Distal muscular dystrophy with autosomal recessive inheritance. (6543900)
1984
21
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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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 Suite gene sharing:

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 motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
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 Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1succinate439.8DMD, CHKB
2bts599.7MYH8, MYH3
3hematoxylin439.6DMD, NGFR
4(s)-(-)-blebbistatin599.6MYH3, MYH8
5(+-)-blebbistatin599.6MYH3, MYH8
6(r)-(+)-blebbistatin599.6MYH8, MYH3
7peroxynitrite439.5NGFR, CHKB
8polyacrylamide439.5NGFR, DMD, CHKB
9leucine439.3NGFR, DMD, CHKB
10creatinine439.1DYSF, CHKB, DMD
11calcium43 49 24 1211.6DYSF, ANO5, CHKB, NGFR, DMD

GO Terms for genes affiliated with Distal Muscular Dystrophy

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Cellular components related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.8DYSF, DMD
2muscle myosin complexGO:00058599.5MYH3, MYH8
3myosin filamentGO:00329829.4MYH3, MYH8
4sarcomereGO:00300179.3MYH3, MYH8
5cytosolGO:00058297.9CHKB, DMD, NGFR, MYH3, MYH8

Biological processes related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.5MYH3, DMD
2skeletal muscle contractionGO:00030099.1MYH8, MYH3
3muscle filament slidingGO:00300499.0MYH8, MYH3, DMD

Molecular functions related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.7MYH8, DMD
2microfilament motor activityGO:00001469.1MYH8, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet