MCID: CYT006
MIFTS: 28

Cytoplasmic Body Myopathy malady

Rare diseases category
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Summaries for Cytoplasmic Body Myopathy

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33MalaCards
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MalaCards: Cytoplasmic Body Myopathy is related to myopathy and myotonic dystrophy. 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 ornithine have been mentioned in the context of this disorder. Related mouse phenotypes are skeleton and limbs/digits/tail.

Aliases & Classifications for Cytoplasmic Body Myopathy

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43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

cytoplasmic body myopathy 43


Related Diseases for Cytoplasmic Body Myopathy

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Sources:
17GeneCards, 18GeneDecks
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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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search 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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37MGI
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MGI Mouse Phenotypes related to Cytoplasmic Body Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6CHKB, SMN1, DMD
2MP:00053718.5DMD, SMN1, CHKB
3MP:00053698.1CHKB, SMN1, DMD, DES
4MP:00053868.0CHKB, SMN1, DMD, DES
5MP:00053767.7CHKB, SMN1, DMD, DES

Publications for Cytoplasmic Body Myopathy

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52PubMed
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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: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study. (7484090)
1995
9
Cytoplasmic body myopathy with hypertrophic cardiomyopathy. (7787321)
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cytoplasmic Body Myopathy

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

Pathways for genes affiliated with Cytoplasmic Body Myopathy

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Pathways related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.3DMD, DES
2
Show member pathways
9.3DMD, DES

Compounds for genes affiliated with Cytoplasmic Body Myopathy

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Sources:
45Novoseek, 24HMDB, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 3BitterDB, 51PharmGKB
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Compounds related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1succinate459.7CHKB, DMD
2ornithine45 2410.7CHKB, DMD
3alpha-bungarotoxin45 29 6111.7DMD, DES
4gemfibrozil29 45 1111.7CHKB, DES
5prednisolone45 29 1111.7DMD, CHKB
6bezafibrate45 29 1111.7CHKB, DES
7hematoxylin459.6DMD, DES
8azathioprine45 3 51 1112.6CHKB, DES
9urea45 24 1111.6DMD, CHKB
10biotin45 24 1111.6DMD, DES
11aminoglycosides459.5SMN1, DMD
12gold459.5DMD, DES
13bromodeoxyuridine459.4DMD, DES
14agarose459.4DMD, CHKB
15dihydrotestosterone45 29 24 1112.4CHKB, DES
16glycerol45 24 1111.3CHKB, DMD
17nacl459.3CHKB, DES
18polyacrylamide459.2DES, DMD, CHKB
19glycogen45 2410.2CHKB, DMD, DES
20creatinine459.2DES, DMD, CHKB
21heparin45 29 24 1112.1CHKB, DMD, DES
22tacrolimus45 51 1111.1CHKB, DMD
23adenylate459.1DES, DMD, CHKB
24nitric oxide45 24 1111.1DES, DMD, CHKB
25cysteine459.0CHKB, DMD, DES
26glucose459.0CHKB, DMD, DES
27arginine458.4CHKB, SMN1, DMD, DES

GO Terms for genes affiliated with Cytoplasmic Body Myopathy

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

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:0423839.3DMD, DES

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

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

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

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

Products for genes affiliated with Cytoplasmic Body Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cytoplasmic Body Myopathy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet