ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 Biomarker group BEFREE ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles. 30987788 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE The type 1 fiber atrophy and clusters of rods in normal size muscle fibers supported the diagnosis of congenital NM and prompted genetic molecular testing, which led to discovery of the novel ACTA1 variant causative of the myopathy. 29731279 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. 28606400 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 Biomarker group BEFREE We conclude that clinically severe ACTA1-related myopathy can present with muscle morphological findings suggestive of cytoplasmic body myopathy in the absence of definite nemaline rods. 28416349 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function. 27112274 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 Biomarker group BEFREE A highly conserved protein, ACTA1 is implicated in multiple muscle diseases, including nemaline myopathy, actin aggregate myopathy, fiber-type disproportion, and rod-core myopathy. 25938801 2015
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Mutations in ACTA1 have been associated with different pathologic findings including nemaline myopathy, intranuclear rod myopathy, actin myopathy, cap myopathy, congenital fiber type disproportion, and core myopathy. 25913210 2015
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. 25182138 2015
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 Biomarker group BEFREE This case illustrates that the myopathy associated with zebra bodies is part of the spectrum of myopathies associated with the ACTA1 gene. 25747004 2015
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE More than 200 mutations in the skeletal muscle α-actin gene (ACTA1) cause either dominant or recessive skeletal muscle disease. 23736297 2013
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE ACTA1 mutations result in five overlapping congenital myopathies: nemaline myopathy; intranuclear rod myopathy; actin filament aggregate myopathy; congenital fiber type disproportion; and myopathy with core-like areas. 19562689 2009
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Mutations in the alpha-skeletal actin gene (ACTA1) result in a variety of inherited muscle disorders characterized by different pathologies and variable clinical phenotypes. 17705262 2007
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Mutations in alpha-skeletal actin (ACTA1) underlie several congenital muscle disorders including nemaline myopathy (NM). 16288873 2005
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group LHGDN Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 15520409 2004
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group LHGDN Thus, this congenital myopathy can be caused by a new type of ACTA1 gene mutation, a new non-ACTA1 gene mutation, or no mutation at all, designating it as an actin-related myopathy, perhaps a new type of congenital myopathy and a new member of protein aggregate myopathies marked by aggregation of proteins within muscle fibers, among them desminopathies, alpha-beta crystallinopathies, other desmin-related myopathies (also termed myofibrillar myopathies), actinopathies and, now, actin-related myopathies. 15072110 2004
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Thus, this congenital myopathy can be caused by a new type of ACTA1 gene mutation, a new non-ACTA1 gene mutation, or no mutation at all, designating it as an actin-related myopathy, perhaps a new type of congenital myopathy and a new member of protein aggregate myopathies marked by aggregation of proteins within muscle fibers, among them desminopathies, alpha-beta crystallinopathies, other desmin-related myopathies (also termed myofibrillar myopathies), actinopathies and, now, actin-related myopathies. 15072110 2004
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 Biomarker group HPO