Aliases & Classifications for Actin-Accumulation Myopathy

MalaCards integrated aliases for Actin-Accumulation Myopathy:

Name: Actin-Accumulation Myopathy 24 69
Nemaline Myopathy 3 24 69
Congenital Myopathy with Excess of Thin Filaments 24
Actin Filament Aggregate Myopathy 24
Actin Myopathy 24

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Summaries for Actin-Accumulation Myopathy

Genetics Home Reference : 24 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. An important gene associated with Actin-Accumulation Myopathy is ACTA1 (Actin, Alpha 1, Skeletal Muscle). 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:

38
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

ClinVar genetic disease variations for Actin-Accumulation Myopathy:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA1 NM_001100.3(ACTA1): c.287T> C (p.Leu96Pro) single nucleotide variant Pathogenic rs121909519 GRCh37 Chromosome 1, 229568470: 229568470
2 ACTA1 NM_001100.3(ACTA1): c.350A> G (p.Asn117Ser) single nucleotide variant Pathogenic rs121909520 GRCh37 Chromosome 1, 229568407: 229568407
3 ACTA1 NM_001100.3(ACTA1): c.493G> T (p.Val165Leu) single nucleotide variant Pathogenic rs121909522 GRCh37 Chromosome 1, 229568140: 229568140
4 ACTA1 NM_001100.3(ACTA1): c.782A> T (p.Glu261Val) single nucleotide variant Pathogenic rs121909523 GRCh37 Chromosome 1, 229567767: 229567767
5 ACTA1 NM_001100.3(ACTA1): c.1075A> C (p.Ile359Leu) single nucleotide variant Pathogenic rs121909524 GRCh37 Chromosome 1, 229567305: 229567305
6 ACTA1 NM_001100.3(ACTA1): c.808G> T (p.Gly270Cys) single nucleotide variant Pathogenic rs121909525 GRCh37 Chromosome 1, 229567741: 229567741
7 ACTA1 NM_001100.3(ACTA1): c.414C> G (p.Ile138Met) single nucleotide variant Pathogenic rs121909526 GRCh37 Chromosome 1, 229568343: 229568343
8 ACTA1 NM_001100.3(ACTA1): c.493G> A (p.Val165Met) single nucleotide variant Pathogenic rs121909522 GRCh37 Chromosome 1, 229568140: 229568140
9 ACTA1 NM_001100.3(ACTA1): c.984G> C (p.Lys328Asn) single nucleotide variant Pathogenic rs398122936 GRCh37 Chromosome 1, 229567474: 229567474
10 ACTA1 NM_001100.3(ACTA1): c.1074G> T (p.Trp358Cys) single nucleotide variant Pathogenic rs587777354 GRCh37 Chromosome 1, 229567306: 229567306
11 ACTA1 NM_001100.3(ACTA1): c.808G> C (p.Gly270Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909525 GRCh37 Chromosome 1, 229567741: 229567741
12 ACTA1 NM_001100.3(ACTA1): c.660C> A (p.Tyr220Ter) single nucleotide variant Pathogenic rs201823652 GRCh38 Chromosome 1, 229432142: 229432142
13 ACTA1 NM_001100.3(ACTA1): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic rs1064794287 GRCh37 Chromosome 1, 229568080: 229568080
14 ACTA1 NM_001100.3(ACTA1): c.109G> T (p.Val37Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 229568754: 229568754
15 ACTA1 NM_001100.3(ACTA1): c.84_85insT (p.Pro29Serfs) insertion Pathogenic rs753923758 GRCh37 Chromosome 1, 229568778: 229568779
16 ACTA1 NM_001100.3(ACTA1): c.616+1G> A single nucleotide variant Pathogenic rs111812550 GRCh37 Chromosome 1, 229568016: 229568016

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

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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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