MCID: CYT006
MIFTS: 23

Cytoplasmic Body Myopathy malady

Rare diseases category

Aliases & Classifications for Cytoplasmic Body Myopathy

About this section

Aliases & Descriptions for Cytoplasmic Body Myopathy:

Name: Cytoplasmic Body Myopathy 42


Classifications:



Summaries for Cytoplasmic Body Myopathy

About this section
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

About this section

Graphical network of the top 20 diseases related to Cytoplasmic Body Myopathy:



Diseases related to cytoplasmic body myopathy

Symptoms for Cytoplasmic Body Myopathy

About this section

Drugs & Therapeutics for Cytoplasmic Body Myopathy

About this section

Drug clinical trials:

Search ClinicalTrials for Cytoplasmic Body Myopathy

Search NIH Clinical Center for Cytoplasmic Body Myopathy

Genetic Tests for Cytoplasmic Body Myopathy

About this section

Anatomical Context for Cytoplasmic Body Myopathy

About this section

Animal Models for Cytoplasmic Body Myopathy or affiliated genes

About this section

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

About this section

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

About this section

Expression for genes affiliated with Cytoplasmic Body Myopathy

About this section
Search GEO for disease gene expression data for Cytoplasmic Body Myopathy.

Pathways for genes affiliated with Cytoplasmic Body Myopathy

About this section

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

About this section

Compounds related to Cytoplasmic Body Myopathy according to GeneCards Suite gene sharing:

(show all 27)
idCompoundScoreTop Affiliating Genes
1succinate449.7DMD, CHKB
2ornithine44 2410.7DMD, CHKB
3alpha-bungarotoxin44 28 6011.7DMD, DES
4gemfibrozil28 44 1111.7CHKB, DES
5prednisolone44 28 1111.7DMD, CHKB
6bezafibrate44 28 1111.7DES, CHKB
7hematoxylin449.6DES, DMD
8azathioprine44 1 50 1112.6DES, CHKB
9urea44 24 1111.6DMD, CHKB
10biotin44 24 1111.6DES, DMD
11aminoglycosides449.5SMN1, DMD
12gold449.5DMD, DES
13bromodeoxyuridine449.4DMD, DES
14agarose449.4DMD, CHKB
15dihydrotestosterone44 28 24 1112.4CHKB, DES
16glycerol44 24 1111.3CHKB, DMD
17nacl449.3CHKB, DES
18polyacrylamide449.2DES, DMD, CHKB
19glycogen44 2410.2DMD, CHKB, DES
20creatinine449.2DES, DMD, CHKB
21heparin44 28 24 1112.1CHKB, DMD, DES
22tacrolimus44 50 1111.1CHKB, DMD
23adenylate449.1DMD, CHKB, DES
24nitric oxide44 24 1111.1CHKB, DMD, DES
25cysteine449.0DMD, DES, CHKB
26glucose449.0CHKB, DMD, DES
27arginine448.4DES, DMD, SMN1, CHKB

GO Terms for genes affiliated with Cytoplasmic Body Myopathy

About this section

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

Sources for Cytoplasmic Body Myopathy

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet