MCID: ACT130
MIFTS: 11

Actin-Accumulation Myopathy

Aliases & Classifications for Actin-Accumulation Myopathy

MalaCards integrated aliases for Actin-Accumulation Myopathy:

Name: Actin-Accumulation Myopathy 26 74
Nemaline Myopathy 3 26 74
Congenital Myopathy with Excess of Thin Filaments 26
Actin Filament Aggregate Myopathy 26
Actin Myopathy 26

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Summaries for Actin-Accumulation Myopathy

Genetics Home Reference : 26 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.

MalaCards based summary : Actin-Accumulation Myopathy, also known as nemaline myopathy 3, is related to nemaline myopathy 3 and muscle disorders, 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:

# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 3 11.5
2 muscle disorders 10.1
3 myopathy 10.1
4 nemaline myopathy 9.8

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:

42
Skeletal Muscle

Publications for Actin-Accumulation Myopathy

Articles related to Actin-Accumulation Myopathy:

# Title Authors Year
1
Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation. ( 20621480 )
2010

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
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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