{"orpha":206564,"name":"POMGNT1-related limb-girdle muscular dystrophy R15","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2O","LGMD type 2O","LGMD2O","Limb-girdle muscular dystrophy type 2O","POMGNT1-related LGMD R15"],"definition":"A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206564/","orphanet_url":"https://www.orpha.net/en/disease/detail/206564","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à POMGNT1 R15","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2O","Dystrophie musculaire des ceintures type 2O","LGMD associée à POMGNT1 R15","LGMD type 2O","LGMD2O"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2O (LGMD2O) est une forme de dystrophie musculaire des ceintures caractérisée par l'apparition pendant l'enfance ou l'adolescence d'une faiblesse des muscles proximaux progressant rapidement (affectant surtout le cou, les hanches, les ceintures et les abducteurs des épaules), une hypertrophie des mollets et des quadriceps, des contractures au niveau des chevilles et une myopie."},"de":{"name":"POMGNT1-assoziierte Gliedergürtelmuskeldystrophie R15","synonyms":["LGMD Typ 2O","LGMD2O","POMGNT1-assoziierte LGMD R15","Gliedergürtelmuskeldystrophie Typ 2O","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2O"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie mit Beginn im Kindes- oder Jugendalter. Die Krankheit präsentiert sich mit schnell fortschreitender Schwäche der proximalen Gliedmaßen (insbesondere des Nackens, des Hüftgürtels und der Schulterabduktoren), Hypertrophie der Waden und des Quadrizeps, Knöchelkontrakturen und Myopie."},"es":{"name":"Distrofia muscular de cinturas R15 asociada a POMGNT1","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2O","LGMD2O"],"definition":"Es una forma de distrofia muscular de cinturas caracterizada por un inicio en la infancia o adolescencia con debilidad muscular proximal rápidamente progresiva de las extremidades (afectando especialmente a cuello, cintura pélvica y abductores de los hombros), hipertrofia de gemelos y cuádriceps, contracturas de los tobillos y miopía."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2O","synonyms":["LGMD2O"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2O (LGMD2O) è una forma di distrofia muscolare dei cingoli caratterizzata da debolezza dei muscoli prossimali degli arti a progressione rapida (che interessa in particolare il collo, il cingolo dell'anca e gli adduttori della spalla), ipertrofia dei polpacci e dei quadricipiti, contratture delle caviglie e miopia; l'esordio della malattia avviene durante l'infanzia o l'adolescenza."},"nl":{"name":"POMGNT1-gerelateerde limb-girdle-spierdystrofie R15","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2O","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2O","Autosomaal recessieve limb-girdle-spierdystrofie type 2O","LGMD type 2O","LGMD2O","Limb-girdle-spierdystrofie type 2O","POMGNT1-gerelateerde LGMD R15"],"definition":"Een vorm van limb-girdle-spierdystrofie gekarakteriseerd door aanvang in de kindertijd of adolescentie van snel progressieve spierzwakte van proximale ledematen (voornamelijk aantasting van nek, heupgordel, en abductoren van schouder), hypertrofie in kuiten en quadriceps, contracturen van de enkels, en myopie."},"pt":{"name":"Distrofia muscular das cinturas dos membros R15 POMGNT1-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2O"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2O","synonyms":["LGMD2O"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2O","synonyms":["LGMD2O"]},"uk":{"name":"POMGNT1-асоційована кінцівково-поясна мязова дистрофія R15","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2O","LGMD тип 2O","LGMD2O","Мязова дистрофія мязів поясу кінцівок, тип 2O","LGMD R15, повязаний з POMGNT1"],"definition":"A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."},"zh":{"name":"POMGNT1基因相关的肢带肌萎缩症R15型","synonyms":["常染色体隐性遗传肢带型肌营养不良2O型"],"definition":"POMGNT1基因相关肢带肌营养不良症R15是一种肢带肌营养不良症，其主要临床表现为儿童期或青少年期出现进行性近端肢体肌无力（主要累及颈部、骨盆带和肩外展肌）、小腿和股四头肌肥大、踝关节挛缩和近视。"},"tr":{"name":"POMGNT1 -ilişkili ekstremite kavşak tip kas distrofisi R15","synonyms":["LGMD2O","LGMD tip 2O","POMGNT1-ilişkili LGMD R15","Ekstremite-kavşak tipi kas distrofisi tip 2O","Otozomal çekinik ekstremite-kavşak tipi kas distrofisi tip 2O"]}},"xrefs":[{"source":"OMIM","code":"613157","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.41","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102015,"name":"Autosomal recessive limb-girdle muscular dystrophy","classifications":[156,181]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":209024,"name":"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase","classifications":[156]}],"children":[],"genes":[{"symbol":"POMGNT1","name":"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]_18195152[PMID]","hgnc":"19139","ensembl":"ENSG00000085998","omim":"606822","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"18195152[PMID]_22419172[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18195152[PMID]_22419172[PMID]"}],"phenotypes":null}