MCID: RDM001
MIFTS: 22

Rod Myopathy malady

Summaries for Rod Myopathy

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64Wikipedia, 33MalaCards
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Wikipedia:64 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

MalaCards: Rod Myopathy, also known as myopathies, nemaline, is related to nemaline myopathy and myopathy congenital. An important gene associated with Rod Myopathy is ACTA1 (actin, alpha 1, skeletal muscle), and among its related pathways are fMLP Pathway and Calcium Regulation in the Cardiac Cell. The compounds creatinine and proline have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotype adipose tissue.

Aliases & Classifications for Rod Myopathy

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

rod myopathy 43
myopathies, nemaline 61


Related Diseases for Rod Myopathy

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Rod Myopathy:



Diseases related to rod myopathy

Clinical Features for Rod Myopathy

Drugs & Therapeutics for Rod Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Rod Myopathy

Genetic Tests for Rod Myopathy

Anatomical Context for Rod Myopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Rod Myopathy:

33
Skeletal muscle

Animal Models for Rod Myopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Rod Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1ACTA1, RYR1

Publications for Rod Myopathy

Sources:
51PubMed
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Articles related to Rod Myopathy:

(show all 18)
idTitleAuthorsYear
1
Intranuclear rods myopathy with autonomic dysfunction. (23102861)
2013
2
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. (23443021)
2013
3
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures. (23015096)
2013
4
Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI. (23175733)
2012
5
HIV, rods, and the muscles--a discussion about HIV-associated nemaline rod myopathy. (23431674)
2012
6
Pharmacological activation of the pyruvate dehydrogenase complex reduces statin-mediated upregulation of FOXO gene targets and protects against statin myopathy in rodents. (23045346)
2012
7
Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. (19959667)
2009
8
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). (17846275)
2007
9
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). (18461503)
2007
10
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. (16427282)
2006
11
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). (15221331)
2004
12
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. (11113224)
2000
13
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. (11063719)
2000
14
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
15
Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy? (7546014)
1995
16
Neonatal nemaline myopathy with abundant intranuclear rods. (7881297)
1994
17
Intranuclear rods in severe congenital nemaline myopathy. (8232959)
1993
18
Actin filaments form the backbone of nemaline myopathy rods. (622167)
1978

Genetic Variations for Rod Myopathy

Expression for genes affiliated with Rod Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rod Myopathy

Search GEO for disease gene expression data for Rod Myopathy.

Pathways for genes affiliated with Rod Myopathy

Sources:
52QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database
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Compounds for genes affiliated with Rod Myopathy

Sources:
45Novoseek
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Compounds related to Rod Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine459.1ACTA1, RYR1
2proline458.8ACTA1, RYR1

GO Terms for genes affiliated with Rod Myopathy

Sources:
16Gene Ontology
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Biological processes related to Rod Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.1ACTA1, RYR1
2skeletal muscle fiber developmentGO:0487418.8ACTA1, RYR1

Products for genes affiliated with Rod Myopathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rod Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet