{"orpha":314667,"name":"TMEM165-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carbohydrate deficient glycoprotein syndrome type IIk","Congenital disorder of glycosylation type 2k","Congenital disorder of glycosylation type IIk","CDG syndrome type IIk","CDG-IIk","CDG2K"],"definition":"TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene <i>TMEM165</i> (4q12).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314667/","orphanet_url":"https://www.orpha.net/en/disease/detail/314667","names":{"fr":{"name":"TMEM165-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2k","Anomalie congénitale de la glycosylation type IIk","CDG-IIk","CDG2K","Syndrome CDG type IIk","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIk"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par un retard psychomoteur et une dysmorphie (pectus carinatum, cyphose dorsolombaire et scoliose sinistro convexe sévère, phalanges distales courtes, genu varum, syndrome des pieds plats - valgus), un retard de croissance post-natal et une atteinte importante du squelette spondylo-, épi- et métaphysaire. Les autres caractéristiques sont une dysmorphie faciale (hypoplasie de l'étage moyen de la face, ésotropie de l'oeil droit, oreilles implantées bas, palais modérément ogival, petites dents), le syndrome néphrotique, des malformations cardiaques et des difficultés à s'alimenter. La maladie est causée par des mutations du gène <i>TMEM165</i> (4q12)."},"de":{"name":"TMEM165-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ Iik","CDG-IIk","CDG-Syndrom Typ IIk","CDG2K","Kohlenhydrat-defizientes Glykoprotein-Syndrom Iik","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIk"]},"es":{"name":"TMEM165-CDG","synonyms":["CDG-IIk","CDG2k","Síndrome CDG tipo IIk","Síndrome de glicoproteínas deficientes en carbohidratos tipo Iik","Trastorno congénito de la glicosilación tipo 2k","Trastorno congénito de la glicosilación tipo Iik"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por retraso psicomotor - dismorfia (pectus carinatum, cifosis dorsolumbar y escoliosis sinistroconvexa grave, falanges distales cortas, genu vara, síndrome de pies planos - valgos) con deficiencia del crecimiento postnatal y afectación esquelética espondilo-, epi-, y metafisaria. Otros hallazgos adicionales incluyen dismorfia facial (hipoplasia mediofacial, estrabismo interno del ojo derecho, orejas de implantación baja, paladar arqueado, dientes pequeños), síndrome nefrótico, defectos cardíacos y problemas en la alimentación. Esta enfermedad está causada por mutaciones en el gen <i>TMEM165</i> (4q12)."},"it":{"name":"TMEM165-CDG","synonyms":["CDG-IIk","CDG2k","Sindrome CDG, tipo IIk"],"definition":"La TMEM165-CDG è una malattia congenita della N-glicosilazione, caratterizzata da ritardo psicomotorio e dismorfismi (pectus carinatum, cifosi dorso-lombare e scoliosi sinistro-convessa grave, falangi distali corte, ginocchia vare e piede piatto valgo), associati a ritardo della crescita postnatale e grave interessamento scheletrico spondilo-, epi- e metafisario. Altri segni clinici sono i dismorfismi facciali (ipoplasia medio-facciale, strabismo convergente dell'occhio destro, orecchie a basso impianto, palato moderatamente ogivale, denti piccoli), sindrome nefrosica, cardiopatie e problemi di alimentazione. La malattia è causata dalle mutazioni nel gene <i>TMEM165</i> (4q12)."},"nl":{"name":"TMEM165-CDG","synonyms":["CDG-IIk","CDG-syndroom type IIk","CDG2K","Congenitale defecten van de glycosylering type 2k","Congenitale defecten van de glycosylering type IIk","Congenitale glycosylatiestoornis type 2k","Congenitale glycosylatiestoornis type IIk","Koolhydraatdeficiënt glycoproteïne syndroom type IIk"],"definition":"TMEM165-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door psychomotorische achterstand-dysmorfie (pectus carinatum (kippenborst), dorsolumbale kyfose en ernstige sinistroconvexe scoliose, korte distale falangen, genua vara (O-benen), pedes planovalgi-syndroom) met postnatale groeideficiëntie en voorname betrokkenheid van het spondylo-, epi- en metafysaire skelet. Bijkomende kenmerken zijn onder meer faciale dysmorfie (hypoplasie van het middengezicht, inwendig strabisme van het rechter oog, laagstaande oren, matig hoog gebogen verhemelte, kleine tanden), nefrotisch syndroom, hartdefecten, en voedingsproblemen. De ziekte wordt veroorzaakt door mutaties in het gen <i>TMEM165</i> (4q12)."},"pt":{"name":"Síndrome CDG associado ao gene TMEM165","synonyms":["CDG-IIk","CDG2k","Síndrome CDG tipo 2k","Síndrome CDG tipo IIk"]},"pl":{"name":"TMEM165-CDG","synonyms":["CDG2K","CDG-IIk","Zespół CDG typu IIk","Wrodzone zaburzenie glikozylacji typu 2k","Wrodzone zaburzenie glikozylacji typu IIk","Zespół obniżonej glikozylacji glikoprotein typu IIk"]},"cs":{"name":"CDG syndrom, typ IIk","synonyms":["CDG-IIk","CDG2K"]},"uk":{"name":"TMEM165-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIk","Синдром CDG, тип IIk","CDG2K","CDG-IIk","Вроджене порушення глікозилювання типу 2k","Вроджене порушення глікозилювання типу IIk"],"definition":"TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene <i>TMEM165</i> (4q12)."},"zh":{"name":"TMEM165基因型先天性糖基化障碍","synonyms":["糖缺乏性糖蛋白综合征IIk型"],"definition":"TMEM165-CDG是一种先天性N-连接糖基化疾病，其特征是精神运动延迟和畸形（鸡胸、背侧脊柱后凸和严重的左凸性脊柱侧凸、末节短指骨、膝内翻、足跖平坦综合征），伴有出生后生长缺陷，主要脊椎，上肢和干骺端骨骼受累。其它特征包括面部畸形（面中部发育不全、右眼内斜视、耳低位、中度高腭弓、牙齿小）、肾病综合征、心脏缺陷和喂养问题。这种疾病是由基因TMEM165 (4q12)突变引起的。"},"tr":{"name":"TMEM165-CDG","synonyms":["CDG2K","CDG-IIk","CDG sendromu tip IIk","Doğumsal glikozilasyon bozukluğu tip 2k","Doğumsal glikozilasyon bozukluğu tip IIk","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIk"]}},"xrefs":[{"source":"OMIM","code":"614727","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013870","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553571","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12413","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","classifications":[147,156]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TMEM165","name":"transmembrane protein 165","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22683087[PMID]","hgnc":"30760","ensembl":"ENSG00000134851","omim":"614726","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"22683087[PMID]_26238249[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22683087[PMID]_26238249[PMID]"}],"phenotypes":null}