MCID: ACT130
MIFTS: 12

Actin-Accumulation Myopathy

Aliases & Classifications for Actin-Accumulation Myopathy

MalaCards integrated aliases for Actin-Accumulation Myopathy:

Name: Actin-Accumulation Myopathy 25 72
Nemaline Myopathy 3 25 72
Congenital Myopathy with Excess of Thin Filaments 25
Actin Filament Aggregate Myopathy 25
Actin Myopathy 25

External Ids:

UMLS 72 C1834336 C3711389

Summaries for Actin-Accumulation Myopathy

Genetics Home Reference : 25 Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation 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 actin-accumulation 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 actin-accumulation myopathy derives from characteristic accumulations in muscle cells of filaments composed of a protein called actin. These filaments can be seen when muscle tissue is viewed under a microscope.

MalaCards based summary : Actin-Accumulation Myopathy, also known as nemaline myopathy 3, is related to nemaline myopathy 3 and myopathy, and has symptoms including generalized muscle weakness, waddling gait and facial paresis. Affiliated tissues include skeletal muscle.

Related Diseases for Actin-Accumulation Myopathy

Diseases related to Actin-Accumulation Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 3 11.6
2 myopathy 10.1
3 nemaline myopathy 10.0
4 endosteal hyperostosis, autosomal dominant 9.8
5 myopathy, congenital 9.8
6 branchiootic syndrome 1 9.8
7 respiratory failure 9.8
8 dilated cardiomyopathy 9.8
9 hypertrophic cardiomyopathy 9.8
10 intranuclear rod myopathy 9.8
11 hypotonia 9.8

Graphical network of the top 20 diseases related to Actin-Accumulation Myopathy:



Diseases related to Actin-Accumulation Myopathy

Symptoms & Phenotypes for Actin-Accumulation Myopathy

UMLS symptoms related to Actin-Accumulation Myopathy:


generalized muscle weakness, waddling gait, facial paresis

Drugs & Therapeutics for Actin-Accumulation Myopathy

Search Clinical Trials , NIH Clinical Center for Actin-Accumulation Myopathy

Genetic Tests for Actin-Accumulation Myopathy

Anatomical Context for Actin-Accumulation Myopathy

MalaCards organs/tissues related to Actin-Accumulation Myopathy:

41
Skeletal Muscle

Publications for Actin-Accumulation Myopathy

Articles related to Actin-Accumulation Myopathy:

# Title Authors PMID Year
1
Immunoreactivity of antibodies raised against synthetic peptide fragments predicted from mid portions of dystrophin cDNA. 38
2205709 1990

Variations for Actin-Accumulation Myopathy

Expression for Actin-Accumulation Myopathy

Search GEO for disease gene expression data for Actin-Accumulation Myopathy.

Pathways for Actin-Accumulation Myopathy

GO Terms for Actin-Accumulation Myopathy

Sources for Actin-Accumulation 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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