MCID: CYT006
MIFTS: 24

Cytoplasmic Body Myopathy malady

Summaries for Cytoplasmic Body Myopathy

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33MalaCards
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MalaCards: Cytoplasmic Body Myopathy is related to myopathy congenital and werdnig-hoffmann disease. An important gene associated with Cytoplasmic Body Myopathy is CHKB (choline kinase beta), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Striated Muscle Contraction. The compounds succinate and alpha-bungarotoxin have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and muscle.

Aliases & Classifications for Cytoplasmic Body Myopathy

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43NIH Rare Diseases
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Aliases & Descriptions:

cytoplasmic body myopathy 43


Related Diseases for Cytoplasmic Body Myopathy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Cytoplasmic Body Myopathy:



Diseases related to cytoplasmic body myopathy

Clinical Features for Cytoplasmic Body Myopathy

Drugs & Therapeutics for Cytoplasmic Body Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cytoplasmic Body Myopathy

Anatomical Context for Cytoplasmic Body Myopathy

Animal Models for Cytoplasmic Body Myopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Cytoplasmic Body Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.3DMD, SMN1, CHKB
2MP:00053698.0DMD, DES, CHKB, SMN1
3MP:00053768.0CHKB, SMN1, DES, DMD
4MP:00053867.9SMN1, CHKB, DES, DMD

Publications for Cytoplasmic Body Myopathy

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51PubMed
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Articles related to Cytoplasmic Body Myopathy:

(show all 15)
idTitleAuthorsYear
1
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. (20571991)
2010
2
A case of asymptomatic cytoplasmic body myopathy revealed by sinvastatin. (19084404)
2009
3
Cytoplasmic body myopathy masquerading as motor neuron disease. (15389660)
2004
4
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. (11571700)
2001
5
Stiff-Baby--an unusual manifestation of cytoplasmic body myopathy: report of one case. (11811228)
2001
6
Late-onset cytoplasmic body myopathy resembling myotonic dystrophy. (10366237)
1999
7
Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease. (9748045)
1998
8
Congenital cytoplasmic body myopathy: case report. (9075028)
1997
9
Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study. (7484090)
1995
10
Cytoplasmic body myopathy with hypertrophic cardiomyopathy. (7787321)
1995
11
Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. (8122252)
1993
12
Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies. (8186708)
1993
13
Involvement of respiratory muscles in cytoplasmic body myopathy--a pathology study. (2092592)
1990
14
The spectrum of cytoplasmic body myopathy: report of a congenital severe case. (2538089)
1989
15
Cytoplasmic body myopathy. Report on a family and review of the literature. (6886734)
1983

Genetic Variations for Cytoplasmic Body Myopathy

Expression for genes affiliated with Cytoplasmic Body Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cytoplasmic Body Myopathy

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Pathways for genes affiliated with Cytoplasmic Body Myopathy

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
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Pathways related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.3DES, DMD
2
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9.3DES, DMD

Compounds for genes affiliated with Cytoplasmic Body Myopathy

Sources:
45Novoseek, 60Tocris Bioscience, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 2BitterDB
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Compounds related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1succinate459.7CHKB, DMD
2alpha-bungarotoxin45 6010.7DES, DMD
3ornithine45 2410.7CHKB, DMD
4gemfibrozil45 29 1111.7CHKB, DES
5bezafibrate45 29 1111.7DES, CHKB
6prednisolone45 29 1111.7DMD, CHKB
7urea45 11 2411.7CHKB, DMD
8hematoxylin459.6DES, DMD
9azathioprine45 50 2 1112.6CHKB, DES
10biotin45 11 2411.6DES, DMD
11gold459.5DES, DMD
12bromodeoxyuridine459.5DES, DMD
13agarose459.5DMD, CHKB
14aminoglycosides459.5SMN1, DMD
15dihydrotestosterone45 29 11 2412.5DES, CHKB
16tacrolimus45 50 1111.3CHKB, DMD
17nacl459.3CHKB, DES
18polyacrylamide459.2DMD, DES, CHKB
19glycogen45 2410.2CHKB, DES, DMD
20creatinine459.1CHKB, DES, DMD
21heparin45 29 11 2412.1CHKB, DES, DMD
22glycerol45 11 2411.1CHKB, DMD
23adenylate459.1DMD, DES, CHKB
24nitric oxide45 11 2411.1DMD, DES, CHKB
25cysteine458.9CHKB, DES, DMD
26glucose458.8DMD, DES, CHKB
27arginine458.4SMN1, CHKB, DES, DMD

GO Terms for genes affiliated with Cytoplasmic Body Myopathy

Sources:
16Gene Ontology
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Cellular components related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.3DES, DMD
2sarcolemmaGO:0423839.0DES, DMD

Biological processes related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300499.3DES, DMD

Molecular functions related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.3DES, DMD

Products for genes affiliated with Cytoplasmic Body Myopathy

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  • Proteins
  • Lysates
  • Antibodies

Sources for Cytoplasmic Body Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet