MCID: CYT006
MIFTS: 28

Cytoplasmic Body Myopathy malady

Rare diseases category
Download this MalaCard

Summaries for Cytoplasmic Body Myopathy

About this section


Fully expand this MalaCard
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

About this section

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

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:

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

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
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

About this section

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

About this section

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

(show all 27)
idCompoundScoreTop Affiliating Genes
1succinate449.7CHKB, DMD
2ornithine44 2410.7CHKB, DMD
3alpha-bungarotoxin44 28 6111.7DMD, DES
4gemfibrozil28 44 1111.7CHKB, DES
5prednisolone44 28 1111.7DMD, CHKB
6bezafibrate44 28 1111.7CHKB, DES
7hematoxylin449.6DMD, DES
8azathioprine44 2 50 1112.6CHKB, DES
9urea44 24 1111.6DMD, CHKB
10biotin44 24 1111.6DMD, DES
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 2410.2CHKB, DMD, DES
20creatinine449.2DES, DMD, CHKB
21heparin44 28 24 1112.1CHKB, DMD, DES
22tacrolimus44 50 1111.1CHKB, DMD
23adenylate449.1DES, DMD, CHKB
24nitric oxide44 24 1111.1DES, DMD, CHKB
25cysteine449.0CHKB, DMD, DES
26glucose449.0CHKB, DMD, DES
27arginine448.4CHKB, SMN1, DMD, DES

GO Terms for genes affiliated with Cytoplasmic Body Myopathy

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Cytoplasmic Body Myopathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet