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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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RYR1-Related Myopathy[NTR/gene] #1763

Closed mayherpatel closed 4 years ago

mayherpatel commented 4 years ago

Preferred gene-related syndrome label RYR1-Related Myopathy

Synonyms

Definition (free text, please give PubMed ID, if applicable, in format PMID:#######) RYR1-Related Myopathy is a disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These are the most common class of congenital myopathies. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), MH susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. (PMID:30406384) Parent term (use OLS, or your favorite ontology browser) MONDO:0019952 Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term? MONDO:0018528 MONDO:0009712 MONDO:0009711 Your nano-attribution (ORCID) or URL for a working group This is a ClinGen EP request (https://clinicalgenome.org/affiliation/40031/).

nicolevasilevsky commented 4 years ago

@mayherpatel what is MH susceptibility?

mayherpatel commented 4 years ago

@nicolevasilevsky I'm sorry for not defining the acronym. It is malignant hyperthermia susceptibility

nicolevasilevsky commented 4 years ago

It's all good!

nicolevasilevsky commented 4 years ago

This was added as MONDO_0100150 'RYR1-related myopathy'

It will be available in the next release