MCID: CYT006
MIFTS: 18

Cytoplasmic Body Myopathy malady

Category: Rare diseases

Aliases & Classifications for Cytoplasmic Body Myopathy

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Aliases & Descriptions for Cytoplasmic Body Myopathy:

Name: Cytoplasmic Body Myopathy 46

Classifications:



Summaries for Cytoplasmic Body Myopathy

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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 are Hypertrophic cardiomyopathy (HCM) and Striated Muscle Contraction. Related mouse phenotype muscle.

Related Diseases for Cytoplasmic Body Myopathy

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



Diseases related to cytoplasmic body myopathy

Symptoms for Cytoplasmic Body Myopathy

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Drugs & Therapeutics for Cytoplasmic Body Myopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cytoplasmic Body Myopathy

Genetic Tests for Cytoplasmic Body Myopathy

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Anatomical Context for Cytoplasmic Body Myopathy

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Animal Models for Cytoplasmic Body Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Cytoplasmic Body Myopathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5DES, DMD, UTRN

Publications for Cytoplasmic Body Myopathy

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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

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Expression for genes affiliated with Cytoplasmic Body Myopathy

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

Pathways for genes affiliated with Cytoplasmic Body Myopathy

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0DES, DMD
29.0DES, DMD

GO Terms for genes affiliated with Cytoplasmic Body Myopathy

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

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:00315949.6DES, UTRN
2filopodium membraneGO:00315279.5DMD, UTRN
3dystrophin-associated glycoprotein complexGO:00160109.5DMD, UTRN
4Z discGO:00300189.4DES, DMD
5filopodiumGO:00301759.4DMD, UTRN
6postsynaptic membraneGO:00452119.2DMD, UTRN
7synapseGO:00452029.1DMD, UTRN
8sarcolemmaGO:00423838.9DES, DMD, UTRN
9cytoskeletonGO:00058568.2DES, DMD, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.2DES, UTRN
2muscle organ developmentGO:00075179.2DMD, UTRN
3muscle filament slidingGO:00300499.1DES, DMD
4cytoskeleton organizationGO:00070109.0DES, DMD

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

idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:00171669.3DMD, UTRN
2actin bindingGO:00037799.1DMD, UTRN
3structural constituent of cytoskeletonGO:00052009.0DES, DMD
4integrin bindingGO:00051788.8DMD, UTRN

Sources for Cytoplasmic Body Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet