MCID: INT109
MIFTS: 11

Intranuclear Rod Myopathy

Aliases & Classifications for Intranuclear Rod Myopathy

MalaCards integrated aliases for Intranuclear Rod Myopathy:

Name: Intranuclear Rod Myopathy 24 69
Nemaline Myopathy with Exclusively Intranuclear Rods 24
Intranuclear Nemaline Rod Myopathy 24

External Ids:

UMLS 69 C3711377

Summaries for Intranuclear Rod Myopathy

Genetics Home Reference : 24 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

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

# Related Disease Score Top Affiliating Genes
1 myopathy 10.4
2 nemaline myopathy 10.0
3 autonomic dysfunction 10.0
4 encephalopathy 10.0
5 neonatal hypoxic and ischemic brain injury 10.0

Graphical network of the top 20 diseases related to Intranuclear Rod Myopathy:



Diseases related to Intranuclear Rod Myopathy

Symptoms & Phenotypes for Intranuclear Rod Myopathy

Drugs & Therapeutics for Intranuclear Rod Myopathy

Search Clinical Trials , NIH Clinical Center for Intranuclear Rod Myopathy

Genetic Tests for Intranuclear Rod Myopathy

Anatomical Context for Intranuclear Rod Myopathy

MalaCards organs/tissues related to Intranuclear Rod Myopathy:

38
Skeletal Muscle

Publications for Intranuclear Rod Myopathy

Articles related to Intranuclear Rod Myopathy:

# Title Authors Year
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

Expression for Intranuclear Rod Myopathy

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

Pathways for Intranuclear Rod Myopathy

GO Terms for Intranuclear Rod Myopathy

Sources for Intranuclear Rod Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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