MCID: INT109
MIFTS: 9

Intranuclear Rod Myopathy malady

Aliases & Classifications for Intranuclear Rod Myopathy

Aliases & Descriptions for Intranuclear Rod Myopathy:

Name: Intranuclear Rod Myopathy 25 69
Nemaline Myopathy with Exclusively Intranuclear Rods 25
Intranuclear Nemaline Rod Myopathy 25

Summaries for Intranuclear Rod Myopathy

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

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

id Related Disease Score Top Affiliating Genes
1 myopathy 10.3
2 nemaline myopathy 9.9
3 autonomic dysfunction 9.9
4 encephalopathy 9.9

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:

39
Skeletal Muscle

Publications for Intranuclear Rod Myopathy

Articles related to Intranuclear Rod Myopathy:

id 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
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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....