Aliases & Classifications for Actin-Accumulation Myopathy

MalaCards integrated aliases for Actin-Accumulation Myopathy:

Name: Actin-Accumulation Myopathy 25 73
Nemaline Myopathy 3 25 73
Congenital Myopathy with Excess of Thin Filaments 25
Actin Filament Aggregate Myopathy 25
Actin Myopathy 25

External Ids:

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.

MalaCards based summary : Actin-Accumulation Myopathy, also known as nemaline myopathy 3, is related to nemaline myopathy 3, and has symptoms including waddling gait, facial paresis and generalized muscle weakness. 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 11.3

Symptoms & Phenotypes for Actin-Accumulation Myopathy

UMLS symptoms related to Actin-Accumulation Myopathy:


waddling gait, facial paresis, generalized muscle weakness

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 Year
1
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). ( 15221331 )
2004
2
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. ( 10508519 )
1999

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....