{"orpha":707983,"name":"Early-onset autosomal recessive TTN-related distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Young or early adult onset recessive distal titinopathy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-707983/","orphanet_url":"https://www.orpha.net/en/disease/detail/707983","names":{"fr":{"name":"Myopathie distale autosomique récessive à début précoce associée à TTN","synonyms":["Titinopathie distale récessive d'apparition jeune ou au début de l'âge adulte"]},"de":{"name":"TTN-abhängige distale Myopathie mit Beginn in der Kindheit","synonyms":["Distale Myopathie, TTN-assoziierte, autosomal-rezessive","Im Kindes- oder frühem Erwachsenenalter auftretende distale Titinopathie"]},"es":{"name":"Miopatía distal autosómica recesiva de inicio precoz asociada a TTRN","synonyms":["Titinopatía distal recesiva de inicio juvenil o en la edad adulta temprana"]},"it":{"name":"Miopatia distale autosomica recessiva ad esordio precoce correlata a TTN","synonyms":["Titinopatia distale recessiva ad esordio giovanile o nella prima età adulta"]},"nl":{"name":"Vroeg optredende autosomaal recessieve TTN-gerelateerde distale myopathie","synonyms":["Recessieve distale titinopathie beginnend op vroege volwassen leeftijd"]},"pt":{"name":"Early-onset autosomal recessive TTN-related distal myopathy"},"pl":{"name":"Miopatia dystalna o wczesnym początku związana z TTN o dziedziczeniu autosomalnym recesywnym","synonyms":["Young or early adult onset recessive distal titinopathy"]},"cs":{"name":"Early-onset autosomal recessive TTN-related distal myopathy","synonyms":["Young or early adult onset recessive distal titinopathy"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206653,"name":"Autosomal recessive distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27796757[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"24395473[PMID]_27796757[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24395473[PMID]_27796757[PMID]_ORPHANET"}],"phenotypes":null}