MCID: DST004
MIFTS: 34

Distal Muscular Dystrophy malady

Muscle diseases category

Summaries for Distal Muscular Dystrophy

About this section
Sources:
63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 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 myopathy. 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:46 254130,613319,606768

Aliases & Classifications for Distal Muscular Dystrophy

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 46OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

distal muscular dystrophy 8 10 44
distal muscular dystrophies 60
muscular dystrophy, distal 8
miyoshi muscular dystrophy 8
distal myopathies 44
distal myopathy 8


External Ids:

Disease Ontology8 DOID:11720
MeSH34 D049310
SNOMED-CT56 58795000
NCIt39 C84675

Related Diseases for Distal Muscular Dystrophy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.1DYSF, DMD, CHKB
2miyoshi myopathy30.1DYSF, CHKB
3myopathy30.1DMD, CHKB, DYSF
4calpainopathy29.9DMD, DYSF
5limb-girdle muscular dystrophy29.9DMD, DYSF
6myositis29.9DYSF, CHKB, DMD
7miyoshi muscular dystrophy 310.6
8miyoshi muscular dystrophy 110.6
9welander distal myopathy, swedish type10.5
10miyoshi muscular dystrophy 210.5
11inclusion body myositis10.4
12udd distal myopathy10.3
13distal myopathy with early respiratory muscle involvement10.2
14dysferlinopathy10.1
15laing distal myopathy10.1
16distal myopathy with vocal cord weakness10.1
17distal myopathy markesbery-griggs type10.1
18distal myopathy 410.1
19pharyngitis10.1
20oculopharyngeal muscular dystrophy10.1
21cav3-related distal myopathy10.1
22adult-onset distal myopathy due to vcp mutation10.1
23dystrophinopathies10.0DMD
24gas gangrene10.0DMD
25becker muscular dystrophy10.0DMD
26myocarditis10.0CHKB, DMD
27muscular dystrophy-dystroglycanopathy , type c, 510.0DYSF, CHKB
28limb-girdle muscular dystrophy, type 2g10.0DMD, DYSF
29limb-girdle muscular dystrophy type 2f10.0DYSF, DMD
30limb-girdle muscular dystrophy, type 2b10.0DMD, DYSF
31centronuclear myopathy10.0DMD
32clubfoot10.0MYH3
33neuropathy10.0DYSF, DMD
34myopathy congenital10.0CHKB, DYSF, DMD
35neuromuscular disease10.0DYSF, DMD, CHKB
36protein s deficiency10.0DYSF, DMD
37noonan syndrome10.0DMD, DYSF, CHKB
38polymyositis10.0CHKB, DYSF, DMD
39distal arthrogryposis10.0MYH8, MYH3
40duchenne muscular dystrophy10.0CHKB, DMD
41atrioventricular block10.0
42nemaline myopathy10.0
43cystinosis10.0
44restrictive cardiomyopathy10.0
45gne-related myopathy10.0
46myopathy, distal, with anterior tibial onset10.0
47myopathy, myofibrillar, 410.0

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



Diseases related to distal muscular dystrophy

Clinical Features for Distal Muscular Dystrophy

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

254130,613319,606768

Drugs & Therapeutics for Distal Muscular Dystrophy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Distal Muscular Dystrophy

About this section

Animal Models for Distal Muscular Dystrophy or affiliated genes

About this section

Publications for Distal Muscular Dystrophy

About this section
Sources:
50PubMed
See all sources

Articles related to Distal Muscular Dystrophy:

(show all 37)
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
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. (20096397)
2010
4
Early onset distal muscular dystrophy with normal dysferlin expression. (16310593)
2005
5
A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers]. (15568488)
2004
6
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. (15328561)
2004
7
Late-onset distal muscular dystrophy affecting the posterior calves. (14506716)
2003
8
Distal muscular dystrophy of the Miyoshi type. (12908758)
2003
9
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. (11198284)
2001
10
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. (11134403)
2000
11
An autosomal dominant early adult-onset distal muscular dystrophy. (11102913)
2000
12
Characteristic form of standing up from squatting in Miyoshi's distal muscular dystrophy. (10622454)
1999
13
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. (9608566)
1998
14
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. (9673985)
1998
15
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. (9397016)
1997
16
Distal muscular dystrophy. Case reports. (9208214)
1997
17
Autosomal recessive distal muscular dystrophy. (9412850)
1997
18
Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature. (9007741)
1997
19
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. (8733044)
1996
20
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. (7723968)
1995
21
Early onset distal muscular dystrophy. (7573762)
1995
22
Two patients with distal muscular dystrophy and autonomic nerve dysfunction. (8059932)
1994
23
Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. (7836950)
1994
24
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (8445613)
1993
25
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
26
Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35. (1642240)
1992
27
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. (1998333)
1991
28
Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14. (3225626)
1988
29
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. (3100805)
1986
30
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. (3942856)
1986
31
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. (3985587)
1985
32
Distal muscular dystrophy. (4058478)
1985
33
Distal muscular dystrophy with autosomal recessive inheritance. (6543900)
1984
34
Familial oculopharyngeal muscular dystrophy with distal spread. (6194273)
1983
35
Oculopharyngeal muscular dystrophy and distal myopathy. Intrafamilial difference in the onset and distribution of muscular involvement. (7113658)
1982
36
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. (7254232)
1981
37
Distal muscular dystrophy in an English family. (5552164)
1971

Genetic Variations for Distal Muscular Dystrophy

About this section

Expression for genes affiliated with Distal Muscular Dystrophy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore, 51QIAGEN
See all sources

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, MYH8, MYH3
4
Hide members
9.1MYH3, MYH8, NGFR

Compounds for genes affiliated with Distal Muscular Dystrophy

About this section
Sources:
59Tocris Bioscience, 44Novoseek
See all sources

Compounds related to Distal Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-blebbistatin599.6MYH8, MYH3
2(r)-(+)-blebbistatin599.5MYH3, MYH8
3bts599.4MYH3, MYH8
4polyacrylamide449.4NGFR, CHKB, DMD
5(s)-(-)-blebbistatin599.2MYH3, MYH8

GO Terms for genes affiliated with Distal Muscular Dystrophy

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Muscular Dystrophy

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet