MCID: CYT006
MIFTS: 28

Cytoplasmic Body Myopathy malady

Rare diseases category

Summaries for Cytoplasmic Body Myopathy

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Sources:
34MalaCards
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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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Sources:
44NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

cytoplasmic body myopathy 44


Related Diseases for Cytoplasmic Body Myopathy

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Sources:
18GeneCards, 19GeneDecks
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Cytoplasmic Body Myopathy

Search NIH Clinical Center for Cytoplasmic Body Myopathy

Search CenterWatch 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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Sources:
38MGI
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MGI Mouse Phenotypes related to Cytoplasmic Body Myopathy:

38
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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Sources:
53PubMed
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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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Sources:
2BioGPS, 16Gene 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

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome
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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 cardiomyopathy39
9.3DMD, DES
2
Show member pathways
9.3DMD, DES

Compounds for genes affiliated with Cytoplasmic Body Myopathy

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Sources:
46Novoseek, 25HMDB, 30IUPHAR, 62Tocris Bioscience, 12DrugBank, 3BitterDB, 52PharmGKB
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Compounds related to Cytoplasmic Body Myopathy according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1succinate469.7CHKB, DMD
2ornithine46 2510.7CHKB, DMD
3alpha-bungarotoxin46 30 6211.7DMD, DES
4gemfibrozil30 46 1211.7CHKB, DES
5prednisolone46 30 1211.7DMD, CHKB
6bezafibrate46 30 1211.7CHKB, DES
7hematoxylin469.6DMD, DES
8azathioprine46 3 52 1212.6CHKB, DES
9urea46 25 1211.6DMD, CHKB
10biotin46 25 1211.6DMD, DES
11aminoglycosides469.5SMN1, DMD
12gold469.5DMD, DES
13bromodeoxyuridine469.4DMD, DES
14agarose469.4DMD, CHKB
15dihydrotestosterone46 30 25 1212.4CHKB, DES
16glycerol46 25 1211.3CHKB, DMD
17nacl469.3CHKB, DES
18polyacrylamide469.2DES, DMD, CHKB
19glycogen46 2510.2CHKB, DMD, DES
20creatinine469.2DES, DMD, CHKB
21heparin46 30 25 1212.1CHKB, DMD, DES
22tacrolimus46 52 1211.1CHKB, DMD
23adenylate469.1DES, DMD, CHKB
24nitric oxide46 25 1211.1DES, DMD, CHKB
25cysteine469.0CHKB, DMD, DES
26glucose469.0CHKB, DMD, DES
27arginine468.4CHKB, SMN1, DMD, DES

GO Terms for genes affiliated with Cytoplasmic Body Myopathy

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Sources:
17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet