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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[NTR/gene]TTN-Related Myopathy #1731

Closed smcnulty13 closed 4 years ago

smcnulty13 commented 4 years ago

Preferred term label: TTN-Related Myopathy

Synonyms: TTN Myopathy Congenital Myopathy Related to TTN

Definition (free text, please give PubMed ID, if applicable, in format PMID:#######) TTN-Related Myopathy is a disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes (PMID:27854229 and PMID:29691892).

Parent term (use OLS, or your favorite ontology browser): MONDO:0019952 (congenital myopathy)

Suggested child terms for collapse under new term: MONDO:0015705 (autosomal recessive centronuclear myopathy) MONDO:0011362 (hereditary proximal myopathy with early respiratory failure) MONDO:0012714 (early-onset myopathy with fatal cardiomyopathy) MONDO:0017939 (classic multiminicore myopathy)

Comment: In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy.

@nicolevasilevsky: This is a ClinGen EP request (https://clinicalgenome.org/affiliation/40031/).

nicolevasilevsky commented 4 years ago

@smcnulty13 This has been added as MONDO_0100175

It will be in the next release at the end of the month - but if you need it now, I'm happy to run another release sooner (ie today or next week), let me know. :)

smcnulty13 commented 4 years ago

@nicolevasilevsky Thank you for the update! We are scheduled to review the curation of this gene in a ClinGen EP in a couple of weeks, so if you are able to run another release sooner it would be greatly appreciated.

nicolevasilevsky commented 4 years ago

will do! I'll let you know when it is done.