MCID: INT109

Intranuclear Rod Myopathy malady

Aliases & Classifications for Intranuclear Rod Myopathy

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Aliases & Descriptions for Intranuclear Rod Myopathy:

Name: Intranuclear Rod Myopathy 25 67
Nemaline Myopathy with Exclusively Intranuclear Rods 25
 
Intranuclear Nemaline Rod Myopathy 25

Summaries for Intranuclear Rod Myopathy

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Genetics Home Reference:25 Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.

MalaCards based summary: Intranuclear Rod Myopathy, also known as nemaline myopathy with exclusively intranuclear rods, is related to myopathy and nemaline myopathy. An important gene associated with Intranuclear Rod Myopathy is ACTA1 (Actin, Alpha 1, Skeletal Muscle). Affiliated tissues include skeletal muscle.

Related Diseases for Intranuclear Rod Myopathy

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Diseases related to Intranuclear Rod Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.3
2nemaline myopathy9.9
3autonomic dysfunction9.9
4encephalopathy9.9

Symptoms for Intranuclear Rod Myopathy

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Drugs & Therapeutics for Intranuclear Rod Myopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Intranuclear Rod Myopathy

Genetic Tests for Intranuclear Rod Myopathy

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Anatomical Context for Intranuclear Rod Myopathy

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MalaCards organs/tissues related to Intranuclear Rod Myopathy:

35
Skeletal muscle

Animal Models for Intranuclear Rod Myopathy or affiliated genes

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Publications for Intranuclear Rod Myopathy

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Articles related to Intranuclear Rod Myopathy:

idTitleAuthorsYear
1
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. (24787270)
2014
2
Intranuclear rods myopathy with autonomic dysfunction. (23102861)
2013
3
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. (17705262)
2007
4
Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy. (12775505)
2003
5
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
6
Infantile intranuclear rod myopathy. (9010792)
1997

Variations for Intranuclear Rod Myopathy

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Expression for genes affiliated with Intranuclear Rod Myopathy

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Search GEO for disease gene expression data for Intranuclear Rod Myopathy.

Pathways for genes affiliated with Intranuclear Rod Myopathy

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GO Terms for genes affiliated with Intranuclear Rod Myopathy

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Sources for Intranuclear Rod Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet