MCID: CYT006
MIFTS: 28

Cytoplasmic Body Myopathy malady

Rare diseases category

Summaries for Cytoplasmic Body Myopathy

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MalaCards based summary: 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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Cytoplasmic Body Myopathy, Aliases & Descriptions:

Name: Cytoplasmic Body Myopathy 42


Classifications:

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


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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Drug clinical trials:

Search ClinicalTrials for Cytoplasmic Body Myopathy

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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MGI Mouse Phenotypes related to Cytoplasmic Body Myopathy:

36
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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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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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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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 cardiomyopathy37
9.3DMD, DES
2
Show member pathways
9.3DMD, DES

Compounds for genes affiliated with Cytoplasmic Body Myopathy

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Compounds related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1succinate449.7CHKB, DMD
2ornithine44 2510.7CHKB, DMD
3alpha-bungarotoxin44 29 6011.7DMD, DES
4gemfibrozil29 44 1211.7CHKB, DES
5prednisolone44 29 1211.7DMD, CHKB
6bezafibrate44 29 1211.7CHKB, DES
7hematoxylin449.6DMD, DES
8azathioprine44 3 50 1212.6CHKB, DES
9urea44 25 1211.6DMD, CHKB
10biotin44 25 1211.6DMD, DES
11aminoglycosides449.5SMN1, DMD
12gold449.5DMD, DES
13bromodeoxyuridine449.4DMD, DES
14agarose449.4DMD, CHKB
15dihydrotestosterone44 29 25 1212.4CHKB, DES
16glycerol44 25 1211.3CHKB, DMD
17nacl449.3CHKB, DES
18polyacrylamide449.2DES, DMD, CHKB
19glycogen44 2510.2CHKB, DMD, DES
20creatinine449.2DES, DMD, CHKB
21heparin44 29 25 1212.1CHKB, DMD, DES
22tacrolimus44 50 1211.1CHKB, DMD
23adenylate449.1DES, DMD, CHKB
24nitric oxide44 25 1211.1DES, DMD, CHKB
25cysteine449.0CHKB, DMD, DES
26glucose449.0CHKB, DMD, DES
27arginine448.4CHKB, SMN1, DMD, DES

GO Terms for genes affiliated with Cytoplasmic Body Myopathy

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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
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Sources for Cytoplasmic Body Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet