Actin-Accumulation Myopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

External Ids:

UMLS ⁶⁹ C1834336 C3711389

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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.

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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

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Symptoms & Phenotypes for Actin-Accumulation Myopathy

UMLS symptoms related to Actin-Accumulation Myopathy:

waddling gait, facial paresis, generalized muscle weakness

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Drugs & Therapeutics for Actin-Accumulation Myopathy

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

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Genetic Tests for Actin-Accumulation Myopathy

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Anatomical Context for Actin-Accumulation Myopathy

MalaCards organs/tissues related to Actin-Accumulation Myopathy:

³⁸

Skeletal Muscle

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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 )	SchrAPder J.M....Laing N.	2004
2	Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. ( 10508519 )	Nowak K.J....North K.N.	1999

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Genes for Actin-Accumulation Myopathy

Genes related to Actin-Accumulation Myopathy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	ACTA1	Actin, Alpha 1, Skeletal Muscle	Protein Coding	400	Pathogenic ⁶

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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

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Expression for Actin-Accumulation Myopathy

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

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Pathways for Actin-Accumulation Myopathy

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GO Terms for Actin-Accumulation Myopathy

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