MCID: INT109
MIFTS: 12

Intranuclear Rod Myopathy

Aliases & Classifications for Intranuclear Rod Myopathy

MalaCards integrated aliases for Intranuclear Rod Myopathy:

Name: Intranuclear Rod Myopathy 26 74
Nemaline Myopathy with Exclusively Intranuclear Rods 26
Intranuclear Nemaline Rod Myopathy 26

External Ids:

UMLS 74 C3711377

Summaries for Intranuclear Rod Myopathy

Genetics Home Reference : 26 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 nemaline myopathy 3 and myopathy. An important gene associated with Intranuclear Rod Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle). Affiliated tissues include skeletal muscle and brain.

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 nemaline myopathy 3 11.8
2 myopathy 10.5
3 nemaline myopathy 10.4
4 muscle disorders 10.3
5 encephalopathy 10.1
6 neonatal hypoxic and ischemic brain injury 10.1

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:

42
Skeletal Muscle, Brain

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 )
2015
2
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. ( 17705262 )
2007
3
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). ( 18461503 )
2007
4
Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy. ( 12775505 )
2003
5
Infantile intranuclear rod myopathy. ( 9010792 )
1997
6
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. ( 9132135 )
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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