{"orpha":206559,"name":"POMT2-related limb-girdle muscular dystrophy R14","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2N","LGMD type 2N","LGMD2N","Limb-girdle muscular dystrophy type 2N","POMT2-related LGMD R14"],"definition":"A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206559/","orphanet_url":"https://www.orpha.net/en/disease/detail/206559","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à POMT2 R14","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2N","Dystrophie musculaire des ceintures type 2N","LGMD associée à POMT2 R14","LGMD type 2N","LGMD2N"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2N (LGMD2N) est une forme de dystrophie musculaire des ceintures caractérisée pendant la petite enfance par une faiblesse proximale (se manifestant par un ralentissement pendant une course), associée à une hypertrophie des mollets, une légère lordose, une <i>scapula alata</i> et un déficit intellectuel léger ou absent."},"de":{"name":"POMT2-assoziierte Gliedergürtelmuskeldystrophie R14","synonyms":["Gliedergürtelmuskeldystrophie Typ 2N","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2N","LGMD Typ 2N","LGMD2N","POMT2-assoziierte LGMD R14"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die im Kleinkindalter auftritt und durch proximale Schwäche (die sich als Langsamkeit beim Laufen manifestiert) gekennzeichnet ist. Weitere Merkmale sind Wadenhypertrophie, leichter Lordose und Scapula alata. Eine leichte Intelligenzminderung ist möglich."},"es":{"name":"Distrofia muscular de cinturas R14 asociada a POMT2","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2N","LGMD2N"],"definition":"Es una forma de distrofia muscular de cinturas caracterizada por debilidad proximal (manifestándose en lentitud al correr) que se presenta en la infancia, junto con hipertrofia de los gemelos, lordosis leve, escápulas aladas e inteligencia normal (o leve discapacidad intelectual)."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2N","synonyms":["LGMD2N"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2N (LGMD2N) è una forma di distrofia muscolare dei cingoli caratterizzata debolezza prossimale (che si manifesta con rallentamento nella corsa) ad esordio infantile, associata ad ipertrofia dei polpacci, lieve lordosi, scapole alate e intelligenza normale (o lieve disabilità intellettiva)."},"nl":{"name":"POMT2-gerelateerde limb-girdle-spierdystrofie R14","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2N","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2N","Autosomaal recessieve limb-girdle-spierdystrofie type 2N","LGMD type 2N","LGMD2N","Limb-girdle-spierdystrofie type 2N","POMT2-gerelateerde LGMD R14"],"definition":"Een vorm van limb-girdle-spierdystrofie gekarakteriseerd door proximale zwakte (die zich manifesteert als traagheid bij het rennen) die zich presenteert in de zuigelingentijd, samen met hypertrofie van kuit, milde lordose, scapula alata (afstaande schouderbladen) en normale intelligentie (of milde intellectuele achterstand)."},"pt":{"name":"Distrofia muscular das cinturas dos membros R14 POMT2-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2N"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2N","synonyms":["LGMD2N"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2N","synonyms":["LGMD2N"]},"uk":{"name":"POMT2-асоційована кінцівково-поясна мязова дистрофія R14","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2N","LGMD тип 2N","LGMD2N","Мязова дистрофія мязів поясу кінцівок, тип 2N","LGMD R14, повязаний з POMT2"],"definition":"A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability)."},"zh":{"name":"POMT2基因相关的肢带肌萎缩症R14型","synonyms":["常染色体隐性遗传肢带型肌营养不良2N型"],"definition":"POMT2基因相关肢带肌营养不良症R14是一种肢带型肌营养不良症，其主要临床表现为婴儿期近端肢体肌无力（表现为跑步缓慢），伴小腿肥大、轻度脊柱前凸、翼状肩胛和智力正常（或轻度智力障碍）。"},"tr":{"name":"POMT2 -ilişkili ekstremite kavşak tip kas distrofisi R14","synonyms":["LGMD2N","LGMD tipi 2N","POMT2-ilişkili LGMD R14","Ekstremite-kavşak tipi kas distrofisi tip 2N","Otozomal çekinik ekinik ekstremite-kavşak tipi kas distrofisi tip 2N"]}},"xrefs":[{"source":"OMIM","code":"613158","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":"0013162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150418","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":209033,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 2","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POMT2","name":"protein O-mannosyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"19743","ensembl":"ENSG00000009830","omim":"607439","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17923109[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"17923109[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-16","source":"29175898[PMID]_17878207[PMID]_20301582[PMID]_17923109[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006785","label":"Limb-girdle muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030099","label":"Reduced muscle fiber alpha dystroglycan","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030197","label":"Fatigable weakness of skeletal muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006913","label":"Frontal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025169","label":"Left ventricular systolic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003697","label":"Scapuloperoneal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}