Aliases & Classifications for Actin-Accumulation Myopathy

MalaCards integrated aliases for Actin-Accumulation Myopathy:

Name: Actin-Accumulation Myopathy 25 69
Nemaline Myopathy 3 25 69
Congenital Myopathy with Excess of Thin Filaments 25
Actin Filament Aggregate Myopathy 25
Actin Myopathy 25

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, autosomal dominant or recessive and acta1-related nemaline myopathy, 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:

id Related Disease Score Top Affiliating Genes
1 nemaline myopathy 3, autosomal dominant or recessive 12.3
2 acta1-related nemaline myopathy 11.0

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:

39
Skeletal Muscle

Publications for Actin-Accumulation Myopathy

Variations for Actin-Accumulation Myopathy

ClinVar genetic disease variations for Actin-Accumulation Myopathy:

6
id 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

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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40 MedGen
42 MeSH
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44 MGI
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51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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