MCID: CYT006
MIFTS: 18

Cytoplasmic Body Myopathy malady

Category: Rare diseases

Aliases & Classifications for Cytoplasmic Body Myopathy

About this section

Aliases & Descriptions for Cytoplasmic Body Myopathy:

Name: Cytoplasmic Body Myopathy 48

Classifications:



Summaries for Cytoplasmic Body Myopathy

About this section
MalaCards based summary: Cytoplasmic Body Myopathy is related to myopathy and neuronitis. An important gene associated with Cytoplasmic Body Myopathy is DES (Desmin), and among its related pathways is Striated Muscle Contraction. Related mouse phenotype muscle.

Related Diseases for Cytoplasmic Body Myopathy

About this section

Graphical network of diseases related to Cytoplasmic Body Myopathy:



Diseases related to cytoplasmic body myopathy

Symptoms & Phenotypes for Cytoplasmic Body Myopathy

About this section

MGI Mouse Phenotypes related to Cytoplasmic Body Myopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5DES, DMD, UTRN

Drugs & Therapeutics for Cytoplasmic Body Myopathy

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cytoplasmic Body Myopathy

Genetic Tests for Cytoplasmic Body Myopathy

About this section

Anatomical Context for Cytoplasmic Body Myopathy

About this section

Publications for Cytoplasmic Body Myopathy

About this section

Articles related to Cytoplasmic Body Myopathy:

(show all 14)
idTitleAuthorsYear
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
Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. (8122252)
1993
11
Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies. (8186708)
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

About this section

Expression for genes affiliated with Cytoplasmic Body Myopathy

About this section
Search GEO for disease gene expression data for Cytoplasmic Body Myopathy.

Pathways for genes affiliated with Cytoplasmic Body Myopathy

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.0DES, DMD

GO Terms for genes affiliated with Cytoplasmic Body Myopathy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:003159410.0DES, UTRN
2dystrophin-associated glycoprotein complexGO:00160109.8DMD, UTRN
3filopodiumGO:00301759.8DMD, UTRN
4filopodium membraneGO:00315279.8DMD, UTRN
5postsynaptic membraneGO:00452119.8DMD, UTRN
6synapseGO:00452029.7DMD, UTRN
7cytoskeletonGO:00058569.2DES, DMD, UTRN
8sarcolemmaGO:00423839.2DES, DMD, UTRN
9Z discGO:00300189.0DES, DMD

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.9DES, UTRN
2cytoskeleton organizationGO:00070109.6DES, DMD
3muscle filament slidingGO:00300499.6DES, DMD
4muscle organ developmentGO:00075179.1DMD, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.7DMD, UTRN
2integrin bindingGO:00051789.7DMD, UTRN
3structural constituent of cytoskeletonGO:00052009.3DES, DMD
4vinculin bindingGO:00171669.1DMD, UTRN

Sources for Cytoplasmic Body Myopathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet