OntologyTerm actinopathy

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   January 21st, 2020 at 9:33pm

Details

definition 
A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance. (EFO)
namespace 
http://purl.obolibrary.org/obo
parents 
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preferred_name 
actinopathy
source_ontologies 
  1. Experimental Factor Ontology
synonyms 
  1. ACTA1 disease
  2. alpha actinopathy
  3. actin myopathy
term_id 
MONDO:0100084
term_name 
alpha-actinopathy
term_url 
http://purl.obolibrary.org/obo/MONDO_0100084