MCID: DST004
MIFTS: 32

Distal Muscular Dystrophy malady

Muscle category

Summaries for Distal Muscular Dystrophy

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 miyoshi myopathy and calpainopathy. An important gene associated with Distal Muscular Dystrophy is CHKB (choline kinase beta), and among its related pathways are Striated Muscle Contraction and Allograft rejection. The compounds (+-)-blebbistatin and (r)-(+)-blebbistatin have been mentioned in the context of this disorder.

Description from OMIM:47 254130,613319,606768

Aliases & Classifications for Distal Muscular Dystrophy

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 47OMIM
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Classifications:

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


Aliases & Descriptions:

distal muscular dystrophy 8 10 45
distal muscular dystrophies 61
muscular dystrophy, distal 8
miyoshi muscular dystrophy 8
distal myopathies 45
distal myopathy 8


External Ids:

Disease Ontology8 DOID:11720
MeSH35 D049310
SNOMED-CT57 58795000
NCIt40 C84675

Related Diseases for Distal Muscular Dystrophy

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 52)
idRelated DiseaseScoreTop Affiliating Genes
1miyoshi myopathy30.2DYSF, CHKB
2calpainopathy29.9DMD, DYSF
3limb-girdle muscular dystrophy29.9DMD, DYSF
4miyoshi muscular dystrophy 310.6
5miyoshi muscular dystrophy 110.6
6welander distal myopathy, swedish type10.6
7miyoshi muscular dystrophy 210.5
8inclusion body myositis10.4
9udd distal myopathy10.3
10distal myopathy with early respiratory muscle involvement10.2
11dysferlinopathy10.1
12laing distal myopathy10.1
13distal myopathy with vocal cord weakness10.1
14distal myopathy markesbery-griggs type10.1
15muscular dystrophy - late onset10.1
16distal myopathy 410.1
17autonomic dysfunction10.1
18oculopharyngeal muscular dystrophy10.1
19cav3-related distal myopathy10.1
20zaspopathy10.1
21adult-onset distal myopathy due to vcp mutation10.1
22atrioventricular block10.0
23nemaline myopathy10.0
24cystinosis10.0
25gne-related myopathy10.0
26vacuolar myopathy10.0
27nephropathic cystinosis10.0
28rippling muscle disease10.0
29rod myopathy10.0
30myopathy, distal, with anterior tibial onset10.0
31oculopharyngodistal myopathy10.0
32dystrophinopathies10.0DMD
33gas gangrene10.0DMD
34becker muscular dystrophy10.0DMD
35myocarditis10.0CHKB, DMD
36muscular dystrophy-dystroglycanopathy , type c, 510.0DYSF, CHKB
37limb-girdle muscular dystrophy, type 2g10.0DMD, DYSF
38limb-girdle muscular dystrophy type 2f10.0DYSF, DMD
39limb-girdle muscular dystrophy, type 2b10.0DMD, DYSF
40centronuclear myopathy10.0DMD
41clubfoot10.0MYH3
42neuropathy10.0DYSF, DMD
43myopathy10.0DMD, CHKB, DYSF
44myopathy congenital10.0CHKB, DYSF, DMD
45neuromuscular disease10.0DYSF, DMD, CHKB
46muscular dystrophy10.0DYSF, DMD, CHKB
47protein s deficiency10.0DYSF, DMD
48noonan syndrome10.0DMD, DYSF, CHKB
49polymyositis10.0CHKB, DYSF, DMD
50myositis10.0DYSF, CHKB, DMD

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



Diseases related to distal muscular dystrophy

Clinical Features for Distal Muscular Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

254130,613319,606768

Drugs & Therapeutics for Distal Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Distal Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Distal Muscular Dystrophy

Search NIH Clinical Center for Distal Muscular Dystrophy

Search CenterWatch for Distal Muscular Dystrophy

Genetic Tests for Distal Muscular Dystrophy

Anatomical Context for Distal Muscular Dystrophy

Animal Models for Distal Muscular Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Distal Muscular Dystrophy

Sources:
51PubMed
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Articles related to Distal Muscular Dystrophy:

(show all 36)
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
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. (15328561)
2004
6
Late-onset distal muscular dystrophy affecting the posterior calves. (14506716)
2003
7
Distal muscular dystrophy of the Miyoshi type. (12908758)
2003
8
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. (11198284)
2001
9
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. (11134403)
2000
10
An autosomal dominant early adult-onset distal muscular dystrophy. (11102913)
2000
11
Characteristic form of standing up from squatting in Miyoshi's distal muscular dystrophy. (10622454)
1999
12
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. (9608566)
1998
13
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. (9673985)
1998
14
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. (9397016)
1997
15
Distal muscular dystrophy. Case reports. (9208214)
1997
16
Autosomal recessive distal muscular dystrophy. (9412850)
1997
17
Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature. (9007741)
1997
18
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. (8733044)
1996
19
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. (7723968)
1995
20
Early onset distal muscular dystrophy. (7573762)
1995
21
Two patients with distal muscular dystrophy and autonomic nerve dysfunction. (8059932)
1994
22
Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. (7836950)
1994
23
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (8445613)
1993
24
A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD). (8213815)
1993
25
Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35. (1642240)
1992
26
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. (1998333)
1991
27
Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14. (3225626)
1988
28
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. (3100805)
1986
29
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. (3942856)
1986
30
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. (3985587)
1985
31
Distal muscular dystrophy. (4058478)
1985
32
Distal muscular dystrophy with autosomal recessive inheritance. (6543900)
1984
33
Familial oculopharyngeal muscular dystrophy with distal spread. (6194273)
1983
34
Oculopharyngeal muscular dystrophy and distal myopathy. Intrafamilial difference in the onset and distribution of muscular involvement. (7113658)
1982
35
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. (7254232)
1981
36
Distal muscular dystrophy in an English family. (5552164)
1971

Genetic Variations for Distal Muscular Dystrophy

Expression for genes affiliated with Distal Muscular Dystrophy

Sources:
1BioGPS, 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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore, 52QIAGEN
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Pathways related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1MYH8, MYH3, DMD
2
Hide members
9.1MYH8, MYH3, DMD
39.1NGFR, MYH3, MYH8
4
Hide members
9.1NGFR, MYH3, MYH8

Compounds for genes affiliated with Distal Muscular Dystrophy

Sources:
60Tocris Bioscience, 45Novoseek
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Compounds related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-blebbistatin609.6MYH8, MYH3
2(r)-(+)-blebbistatin609.5MYH3, MYH8
3bts609.4MYH3, MYH8
4polyacrylamide459.4NGFR, CHKB, DMD
5(s)-(-)-blebbistatin609.2MYH3, MYH8

GO Terms for genes affiliated with Distal Muscular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:0300169.5MYH8, MYH3
2myosin filamentGO:0329829.2MYH8, MYH3

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300499.1MYH8, MYH3, DMD

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.6MYH8, DMD
2actin bindingGO:0037798.8MYH8, MYH3, DMD

Products for genes affiliated with Distal Muscular Dystrophy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Muscular Dystrophy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet