MCID: CYT006
MIFTS: 19

Cytoplasmic Body Myopathy malady

Categories: Rare diseases

Aliases & Classifications for Cytoplasmic Body Myopathy

Aliases & Descriptions for Cytoplasmic Body Myopathy:

Name: Cytoplasmic Body Myopathy 50

Classifications:



Summaries for Cytoplasmic Body Myopathy

MalaCards based summary : Cytoplasmic Body Myopathy is related to myopathy and sdhc-related paraganglioma and gastric stromal sarcoma. An important gene associated with Cytoplasmic Body Myopathy is DES (Desmin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy. Related phenotype is muscle.

Related Diseases for Cytoplasmic Body Myopathy

Graphical network of the top 20 diseases related to Cytoplasmic Body Myopathy:



Diseases related to Cytoplasmic Body Myopathy

Symptoms & Phenotypes for Cytoplasmic Body Myopathy

MGI Mouse Phenotypes related to Cytoplasmic Body Myopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 DES DMD UTRN

Drugs & Therapeutics for Cytoplasmic Body Myopathy

Search Clinical Trials , NIH Clinical Center for Cytoplasmic Body Myopathy

Genetic Tests for Cytoplasmic Body Myopathy

Anatomical Context for Cytoplasmic Body Myopathy

Publications for Cytoplasmic Body Myopathy

Articles related to Cytoplasmic Body Myopathy:

(show all 14)
id Title Authors Year
1
A case of asymptomatic cytoplasmic body myopathy revealed by sinvastatin. ( 19084404 )
2009
2
Cytoplasmic body myopathy masquerading as motor neuron disease. ( 15389660 )
2004
3
Stiff-Baby--an unusual manifestation of cytoplasmic body myopathy: report of one case. ( 11811228 )
2001
4
Late-onset cytoplasmic body myopathy resembling myotonic dystrophy. ( 10366237 )
1999
5
Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease. ( 9748045 )
1998
6
Congenital cytoplasmic body myopathy: case report. ( 9075028 )
1997
7
Familial desmin myopathies and cytoplasmic body myopathies. ( 8922062 )
1996
8
Cytoplasmic body myopathy with hypertrophic cardiomyopathy. ( 7787321 )
1995
9
Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study. ( 7484090 )
1995
10
Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies. ( 8186708 )
1993
11
Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. ( 8122252 )
1993
12
Involvement of respiratory muscles in cytoplasmic body myopathy--a pathology study. ( 2092592 )
1990
13
The spectrum of cytoplasmic body myopathy: report of a congenital severe case. ( 2538089 )
1989
14
Cytoplasmic body myopathy. Report on a family and review of the literature. ( 6886734 )
1983

Variations for Cytoplasmic Body Myopathy

Expression for Cytoplasmic Body Myopathy

Search GEO for disease gene expression data for Cytoplasmic Body Myopathy.

Pathways for Cytoplasmic Body Myopathy

Pathways related to Cytoplasmic Body Myopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 DES DMD
2
Show member pathways
11.19 DES DMD
3 10.48 DES DMD

GO Terms for Cytoplasmic Body Myopathy

Cellular components related to Cytoplasmic Body Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.58 DES DMD UTRN
2 postsynaptic membrane GO:0045211 9.43 DMD UTRN
3 Z disc GO:0030018 9.37 DES DMD
4 filopodium GO:0030175 9.32 DMD UTRN
5 neuromuscular junction GO:0031594 9.26 DES UTRN
6 filopodium membrane GO:0031527 9.16 DMD UTRN
7 dystrophin-associated glycoprotein complex GO:0016010 8.96 DMD UTRN
8 sarcolemma GO:0042383 8.8 DES DMD UTRN

Biological processes related to Cytoplasmic Body Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.32 DES DMD
2 muscle contraction GO:0006936 9.26 DES UTRN
3 muscle organ development GO:0007517 9.16 DMD UTRN
4 muscle filament sliding GO:0030049 8.96 DES DMD
5 response to denervation involved in regulation of muscle adaptation GO:0014894 8.62 DMD UTRN

Molecular functions related to Cytoplasmic Body Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 DMD UTRN
2 structural constituent of cytoskeleton GO:0005200 9.16 DES DMD
3 integrin binding GO:0005178 8.96 DMD UTRN
4 vinculin binding GO:0017166 8.62 DMD UTRN

Sources for Cytoplasmic Body Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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