MCID: INT109
MIFTS: 12

Intranuclear Rod Myopathy

Aliases & Classifications for Intranuclear Rod Myopathy

MalaCards integrated aliases for Intranuclear Rod Myopathy:

Name: Intranuclear Rod Myopathy 25 72
Nemaline Myopathy with Exclusively Intranuclear Rods 25
Intranuclear Nemaline Rod Myopathy 25

External Ids:

UMLS 72 C3711377

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. The severe muscle weakness that occurs in intranuclear rod myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking. The name intranuclear rod myopathy comes from characteristic abnormal rod-shaped structures that can be seen in the nucleus of muscle cells when muscle tissue is viewed under a microscope.

MalaCards based summary : Intranuclear Rod Myopathy, also known as nemaline myopathy with exclusively intranuclear rods, is related to nemaline myopathy 3 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 nemaline myopathy 3 11.9
2 nemaline myopathy 10.5
3 myopathy 10.5
4 myopathy, congenital 10.3
5 hypotonia 10.3
6 autonomic dysfunction 10.1
7 dysautonomia 10.1
8 encephalopathy 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:

41
Skeletal Muscle

Publications for Intranuclear Rod Myopathy

Articles related to Intranuclear Rod Myopathy:

(show all 19)
# Title Authors PMID Year
1
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. 38
28017374 2017
2
The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus. 38
27774069 2016
3
Severe congenital actin related myopathy with myofibrillar myopathy features. 38
25913210 2015
4
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. 38
24787270 2015
5
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions]. 38
21677359 2011
6
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 38
19562689 2009
7
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. 38
18976909 2009
8
Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. 38
18574571 2008
9
Skeletal muscle alpha-actin diseases. 38
19181090 2008
10
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). 38
18461503 2007
11
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 38
17705262 2007
12
Mechanisms underlying intranuclear rod formation. 38
17928315 2007
13
Congenital myopathies: diseases of the actin cytoskeleton. 38
15495263 2004
14
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). 38
15221331 2004
15
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. 38
15198992 2004
16
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 38
12921789 2003
17
Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy. 38
12775505 2003
18
Infantile intranuclear rod myopathy. 38
9010792 1997
19
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. 38
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
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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