{"orpha":370930,"name":"XYLT1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370930/","orphanet_url":"https://www.orpha.net/en/disease/detail/370930","names":{"fr":{"name":"XYLT1-CDG","definition":"Anomalie congénitale rare de la glycosylation caractérisée par une déficience intellectuelle modérée, une petite taille, de légères modifications squelettiques et des traits faciaux caractéristiques à type de visage grossier, de synophridie et de sillons nasogéniens très marqués. Les caractéristiques squelettiques comprennent des côtes larges, des os longs trapus, un col fémoral court en coxa valga, une clinodactylie et des pouces larges."},"de":{"name":"XYLT1-CDG"},"es":{"name":"XYLT1-CDG","definition":"Es un trastorno de la glicosilación, congénito y poco frecuente, caracterizado por discapacidad intelectual moderada, talla baja, cambios esqueléticos leves y rasgos faciales distintivos con cara tosca, sinofridia y crestas nasolabiales profundas. Las características esqueléticas incluyen costillas anchas, huesos largos y robustos, cuellos femorales cortos con coxa valga, clinodactilia y pulgares anchos."},"it":{"name":"XYLT1-CDG","definition":"XYLT1-CDG è una malattia congenita rara della glicosilazione, caratterizzata da disabilità intellettiva moderata, bassa statura, lievi anomalie scheletriche e dismorfismi facciali caratteristici (aspetto grossolano del viso, sinofria e pliche nasolabiali profonde). Le anomalie scheletriche comprendono l'allargamento delle costole, l'aspetto tozzo delle ossa lunghe, l'accorciamento dei colli femorali, con coxa valga, la clinodattilia e l'allargamento dei pollici."},"nl":{"name":"XYLT1-CDG","definition":"XYLT1-CDG is een zeldzame congenitale glycosylatiestoornis die gekarakteriseerd wordt door matige intellectuele achterstand, kleine gestalte, milde veranderingen van het skelet en typische gelaatskenmerken waaronder ruw gelaat, synophrys en diepe nasolabiale groeven. Kenmerken van het skelet zijn onder meer brede ribben, gedrongen pijpbeenderen, korte femurhalzen met coxa valga, clinodactylie en brede duimen."},"pt":{"name":"XYLT1-CDG"},"pl":{"name":"XYLT1-CDG","definition":"*XYLT1-CDG jest rzadkim, wrodzonym zaburzeniem glikozylacji, które charakteryzuje się umiarkowaną niepełnosprawnością intelektualną, niskim wzrostem, łagodnymi zmianami kostnymi i charakterystycznymi cechami twarzy z grubymi rysami twarzy, zrośnięciem przyśrodkowych części brwi (synofrys) i głębokimi fałdami nosowo-wargowymi. Na objawy kostne składają się: szerokie żebra, grube kości długie, krótkie szyjki kości udowych z biodrami koślawymi, klinodaktylia i szerokie kciuki."},"cs":{"name":"XYLT1-CDG"},"uk":{"name":"XYLT1-CDG","definition":"A rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs."},"zh":{"name":"XYLT1基因型先天性糖基化障碍","definition":"先天性糖基化障碍XYLT1基因型是一种罕见的先天性糖基化障碍，其特征包括中度智力障碍、身材矮小、轻度骨骼改变和独特的面部特征（粗糙面容、骨突和深鼻唇沟）。本病的骨性特征包括宽肋骨、粗壮长骨、短小股骨颈、髋内翻、斜指和宽拇指。"},"tr":{"name":"XYLT1-CDG"}},"xrefs":[{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018273","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750849","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","classifications":[150,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"XYLT1","name":"xylosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23982343[PMID]","hgnc":"15516","ensembl":"ENSG00000103489","omim":"608124","loci":["16p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23982343[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-20","source":"28484880[PMID]_23982343[PMID]","terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500011","label":"Moon facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001027","label":"Soft, doughy skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Occasional (29-5%)","criteria":null}]}}