{"orpha":263494,"name":"DPM3-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Io","CDG-Io","CDG1O","Carbohydrate deficient glycoprotein syndrome type Io","Congenital disorder of glycosylation type 1o","Congenital disorder of glycosylation type Io"],"definition":"DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263494/","orphanet_url":"https://www.orpha.net/en/disease/detail/263494","names":{"fr":{"name":"DPM3-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1o","Anomalie congénitale de la glycosylation type Io","CDG-Io","CDG1O","Syndrome CDG type Io","Syndrome des glycoprotéines déficientes en hydrates de carbone type Io"],"definition":"DPM3-CDG, une forme extrêmement rare de l'anomalie congénitale de la glycosylation est caractérisée dans l'unique cas rapporté jusqu'à présent par une faiblesse musculaire, une démarche dandinante et une cardiomyopathie dilatée."},"de":{"name":"DPM3-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ Io","CDG-Io","CDG-Syndrom Typ Io","CDG1O","Kohlenhydrat-defizientes Glykoprotein-Syndrom Io","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Io"],"definition":"Die Kongenitale Störung der Gykosylierung Typ Io (CDG-Io) ist eine extrem seltene Form des CDG-Syndroms (s. dort). Sie war bei dem bisher einzigen beschriebenen Fall klinisch gekennzeichnet durch Muskelschwäche, watschelnden Gang und dilatative Kardiomyopathie."},"es":{"name":"DPM3-CDG","synonyms":["CDG-Io","CDG1O","Síndrome CDG tipo Io","Síndrome de glicoproteínas deficientes en carbohidratos tipo lo","Trastorno congénito de la glicosilación tipo 1o","Trastorno congénito de la glicosilación tipo Io"],"definition":"El trastorno congénito de la glicosilación tipo 1o (CDG-Io) es una forma extremadamente poco frecuente del síndrome CDG (consulte este término) que, en el único caso registrado, se caracteriza clínicamente por debilidad muscular, marcha de pato, y miocardiopatía dilatada."},"it":{"name":"DPM3-CDG","synonyms":["CDG-Io","CDG1O","Disturbo congenito della glicosilazione, tipo Io","Sindrome CDG, tipo Io","Sindrome delle glicoproteine carenti in carboidrati, tipo Io"],"definition":"Il difetto congenito della glicosilazione tipo 1o (CDG-Io) è una forma molto rara della sindrome CDG (si veda questo termine) caratterizzata, nell'unico paziente descritto, da debolezza muscolare, andatura a base allargata e cardiomiopatia dilatativa."},"nl":{"name":"DPM3-CDG","synonyms":["CDG1O","Congenitale defecten van de glycosylering type 1o","Congenitale defecten van de glycosylering type Io","Congenitale glycosylatiestoornis type 1o","Congenitale glycosylatiestoornis type Io","Koolhydraatdeficiënt glycoproteïne syndroom type Io","CDG-Io","CDG-syndroom type Io"],"definition":"Een uiterst zeldzame vorm van CDG-syndroom, klinisch gekenmerkt, bij het enige geval dat tot op heden gerapporteerd werd, door spierzwakte, waggelende gang, en gedilateerde cardiomyopathie."},"pt":{"name":"SíndromeCDG, tipo Io"},"pl":{"name":"DPM3-CDG","synonyms":["CDG1O","CDG-Io","Zespół CDG typu Io","Wrodzone zaburzenie glikozylacji typu 1o","Wrodzone zaburzenie glikozylacji typu Io","Zespół obniżonej glikozylacji glikoprotein typu Io"]},"cs":{"name":"DPM3-CDG","synonyms":["CDG syndrom, typ Io","CDG-Io","CDG1O","Vrozená porucha glykosylace, typ Io"]},"uk":{"name":"DPM3-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Io","Синдром CDG, тип Io","CDG1O","CDG-Io","Вроджене порушення глікозилювання типу 1о","Вроджене порушення глікозилювання типу Io"],"definition":"DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term)."},"zh":{"name":"DPM3基因型先天性糖基化障碍","synonyms":["糖基化缺陷糖蛋白综合征Io型"],"definition":"DPM3-先天性糖基化障碍是一种极其罕见的CDG综合征(见该词条)，临床特征仅见于一例报告病例的肌肉无力、步态蹒跚和扩张型心肌病(见该词条)。"},"tr":{"name":"DPM3-CDG","synonyms":["CDG1O","CDG-Io","CDG sendromu tip Io","Doğumsal glikozilasyon bozukluğu tip 1o","Doğumsal glikozilasyon bozukluğu tip Io","Karbonhidrat eksikliği olan glikoprotein sendromu tip Io"]}},"xrefs":[{"source":"OMIM","code":"612937","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":"index","validated":true,"icd11_uri":"1389256016"},{"source":"MONDO","code":"0013049","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567857","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2752007","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12395","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371176,"name":"Congenital disorder of glycosylation with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":370953,"name":"Congenital muscular dystrophy due to dystroglycanopathy","classifications":[156,181]},{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DPM3","name":"dolichyl-phosphate mannosyltransferase subunit 3, regulatory","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"3007","ensembl":"ENSG00000179085","omim":"605951","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"19576565[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19576565[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-22","source":"19576565[PMID]_10835346[PMID]","terms":[{"hpo":"HP:0012363","label":"Decreased sialylation of O-linked protein glycosylation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Frequent (79-30%)","criteria":null}]}}