MCID: CYT006
MIFTS: 23

Cytoplasmic Body Myopathy malady

Rare diseases category

Aliases & Classifications for Cytoplasmic Body Myopathy

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Cytoplasmic Body Myopathy, Aliases & Descriptions:

Name: Cytoplasmic Body Myopathy 41


Classifications:

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


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.

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:

35
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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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
Arrhythmogenic right ventricular cardiomyopathy36
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 Suite gene sharing:

(show all 27)
idCompoundScoreTop Affiliating Genes
1succinate439.7CHKB, DMD
2ornithine43 2410.7CHKB, DMD
3alpha-bungarotoxin43 28 5911.7DMD, DES
4gemfibrozil28 43 1211.7CHKB, DES
5prednisolone43 28 1211.7DMD, CHKB
6bezafibrate43 28 1211.7CHKB, DES
7hematoxylin439.6DMD, DES
8azathioprine43 2 49 1212.6CHKB, DES
9urea43 24 1211.6DMD, CHKB
10biotin43 24 1211.6DMD, DES
11aminoglycosides439.5SMN1, DMD
12gold439.5DMD, DES
13bromodeoxyuridine439.4DMD, DES
14agarose439.4DMD, CHKB
15dihydrotestosterone43 28 24 1212.4CHKB, DES
16glycerol43 24 1211.3CHKB, DMD
17nacl439.3CHKB, DES
18polyacrylamide439.2DES, DMD, CHKB
19glycogen43 2410.2CHKB, DMD, DES
20creatinine439.2DES, DMD, CHKB
21heparin43 28 24 1212.1CHKB, DMD, DES
22tacrolimus43 49 1211.1CHKB, DMD
23adenylate439.1DES, DMD, CHKB
24nitric oxide43 24 1211.1DES, DMD, CHKB
25cysteine439.0CHKB, DMD, DES
26glucose439.0CHKB, DMD, DES
27arginine438.4CHKB, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.3DMD, DES

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.3DMD, DES

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.3DMD, DES

Products for genes affiliated with Cytoplasmic Body Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cytoplasmic Body Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet