{"orpha":445110,"name":"Limb-girdle muscular dystrophy due to POMK deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LGMD due to POMK deficiency"],"definition":"Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-445110/","orphanet_url":"https://www.orpha.net/en/disease/detail/445110","names":{"fr":{"name":"Dystrophie musculaire des ceintures par déficit en POMK","synonyms":["LGMD par déficit en POMK"],"definition":"La dystrophie musculaire des ceintures par déficit en POMK est une forme de dystrophie musculaire des ceintures se présentant pendant la petite enfance par une faiblesse musculaire et un retard du développement moteur (apprentissage de la marche à l'âge de 18 mois), suivie d'une faiblesse proximale progressive, une pseudo-hypertrophie des muscles des mollets, une légère faiblesse faciale et une atteinte cognitive limite."},"de":{"name":"Gliedergürtelmuskeldystrophie durch POMK-Mangel","synonyms":["LGMD durch POMK-Mangel"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die sich im Säuglingsalter mit Muskelschwäche und verzögerter motorischer Entwicklung zeigt (bis zum Erlernen des Gehens im Alter von 18 Monaten), gefolgt von progressiver proximaler Schwäche, Pseudohypertrophie der Wadenmuskeln, leichter Schwäche der Fazialmuskeln und grenzwertiger Intelligenz."},"es":{"name":"Distrofia muscular de cinturas por deficiencia de POMK","synonyms":["LGMD por deficiencia de POMK"],"definition":"La distrofia muscular de cinturas por deficiencia de POMK es una forma de distrofia muscular de cinturas que se presenta en la infancia con debilidad muscular y retraso del desarrollo motor (logrando caminar a los 18 meses de edad) seguida de debilidad proximal progresiva, pseudohipertrofia de los gemelos, debilidad facial leve e inteligencia límite."},"it":{"name":"Distrofia muscolare dei cingoli da deficit di POMK","synonyms":["LGMD da deficit di POMK"],"definition":"La distrofia muscolare dei cingoli da deficit di POMK è una forma di distrofia muscolare dei cingoli ad esordio infantile, caratterizzata da debolezza muscolare e ritardo dello sviluppo motorio (il bambino inizia a camminare a 18 mesi), seguiti da debolezza prossimale progressiva, pseudoipertrofia dei muscoli del polpaccio, lieve ipotonia facciale e intelligenza borderline."},"nl":{"name":"Limb-girdle-spierdystrofie als gevolg van POMK-deficiëntie","synonyms":["Bekken- en schoudergordel-spierdystrofie als gevolg van POMK-deficiëntie","LGMD als gevolg van POMK-deficiëntie","Ledemaatgordel-spierdystrofie als gevolg van POMK-deficiëntie"],"definition":"Limb-girdle-spierdystrofie als gevolg van POMK-deficiëntie is een vorm van limb-girdle-spierdystrofie die zich voordoet in de zuigelingentijd met spierzwakte en vertraagde motorische ontwikkeling (uiteindelijk leren patiënten stappen rond de leeftijd van 18 maanden), gevolgd door progressieve proximale zwakte, pseudohypertrofie van de kuitspieren, milde faciale zwakte, en beperkte intelligentie."},"pt":{"name":"Distrofia muscular das cinturas dos membros devido a défice de POMK"},"pl":{"name":"Dystrofia obręczowo-kończynowa spowodowana niedoborem POMK","synonyms":["LGMD spowodowana niedoborem POMK"]},"cs":{"name":"Pletencová svalová dystrofie způsobená deficitem POMK","synonyms":["LGMD způsobená deficitem POMK"]},"uk":{"name":"Кінцівково-поясна мязова дистрофія, зумовлена дефіцитом POMK","synonyms":["LGMD через дефіцит POMK"],"definition":"Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence."},"zh":{"name":"POMK缺陷导致肢带肌型肌营养不良","synonyms":["POMK缺乏导致的LGMD"],"definition":"由于POMK缺乏而导致的肢带肌营养不良是一种出现在婴儿期的肢带肌营养不良，伴有肌无力和运动发育迟缓（在18个月大时可学会走路），随后是进行性近端无力，小腿肌肉假性肥大，轻度面部无力和边缘性智力障碍。"},"tr":{"name":"POMK eksikliğine bağlı ekstremite-kuşak kas distrofisi","synonyms":["POMK eksikliğine bağlı LGMD"]}},"xrefs":[{"source":"OMIM","code":"616094","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},{"source":"MONDO","code":"0014489","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015184","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":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":207113,"name":"Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan","classifications":[156]}],"children":[],"genes":[{"symbol":"POMK","name":"protein O-mannose kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24925318[PMID]","hgnc":"26267","ensembl":"ENSG00000185900","omim":"615247","loci":["8p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24925318[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24925318[PMID]"}],"phenotypes":null}