Disease association ontology term - MONDO:0100084 - alpha-actinopathy

Term summary

ID

MONDO:0100084

Name

alpha-actinopathy

Ontology or CV name

Disease association

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.

Parents

• is_a congenital nervous system disorder
• is_a qualitative or quantitative protein defects in neuromuscular diseases
• is_a congenital myopathy
• is_a hereditary neurological disease
• is_a hereditary skeletal muscle disorder

Annotation