MCID: CYT006
MIFTS: 19

Cytoplasmic Body Myopathy malady

Rare diseases category

Aliases & Classifications for Cytoplasmic Body Myopathy

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Aliases & Descriptions for Cytoplasmic Body Myopathy:

Name: Cytoplasmic Body Myopathy 45


Classifications:



Summaries for Cytoplasmic Body Myopathy

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MalaCards based summary: Cytoplasmic Body Myopathy is related to myopathy and hypertrophic cardiomyopathy. 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 phenotypes are cardiovascular system and 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5DES, DMD, UTRN
2MP:00053698.2DES, DMD, UTRN

Publications for Cytoplasmic Body Myopathy

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Articles related to Cytoplasmic Body Myopathy:

(show all 13)
idTitleAuthorsYear
1
A case of asymptomatic cytoplasmic body myopathy revealed by sinvastatin. (19084404)
2009
2
Stiff-Baby--an unusual manifestation of cytoplasmic body myopathy: report of one case. (11811228)
2001
3
Late-onset cytoplasmic body myopathy resembling myotonic dystrophy. (10366237)
1999
4
Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease. (9748045)
1998
5
Congenital cytoplasmic body myopathy: case report. (9075028)
1997
6
Familial desmin myopathies and cytoplasmic body myopathies. (8922062)
1996
7
Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study. (7484090)
1995
8
Cytoplasmic body myopathy with hypertrophic cardiomyopathy. (7787321)
1995
9
Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. (8122252)
1993
10
Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies. (8186708)
1993
11
Involvement of respiratory muscles in cytoplasmic body myopathy--a pathology study. (2092592)
1990
12
The spectrum of cytoplasmic body myopathy: report of a congenital severe case. (2538089)
1989
13
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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0DES, DMD
2
Show member pathways
9.0DES, 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:00315949.8DES, UTRN
2dystrophin-associated glycoprotein complexGO:00160109.3DMD, UTRN
3filopodiumGO:00301759.2DMD, UTRN
4Z discGO:00300189.1DES, DMD
5filopodium membraneGO:00315279.1DMD, UTRN
6postsynaptic membraneGO:00452119.1DMD, UTRN
7synapseGO:00452028.8DMD, UTRN
8cytoskeletonGO:00058568.7DES, DMD, UTRN
9sarcolemmaGO:00423838.4DES, DMD, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.4DES, UTRN
2positive regulation of cell-matrix adhesionGO:00019549.1DMD, UTRN
3muscle organ developmentGO:00075179.0DMD, UTRN
4muscle filament slidingGO:00300499.0DES, DMD
5muscle attachmentGO:00162038.8DMD, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:00021629.1DMD, UTRN
2vinculin bindingGO:00171669.1DMD, UTRN
3actin bindingGO:00037799.0DMD, UTRN
4structural constituent of cytoskeletonGO:00052008.2DES, DMD, UTRN

Sources for Cytoplasmic Body Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet