{"orpha":86309,"name":"DPAGT1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ij","CDG-Ij","CDG1J","Carbohydrate deficient glycoprotein syndrome type Ij","Congenital disorder of glycosylation type 1j","Congenital disorder of glycosylation type Ij","Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency"],"definition":"DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene <i>DPAGT1 </i> (11q23.3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86309/","orphanet_url":"https://www.orpha.net/en/disease/detail/86309","names":{"fr":{"name":"DPAGT1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1j","Anomalie congénitale de la glycosylation type Ij","CDG-Ij","CDG1J","Déficit en dolichyl-phosphate N-acetylgalactosamine phosphotransférase","Syndrome CDG type Ij","Syndrome des glycoprotéines déficientes en hydrates de carbone type Ij"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par une hypotonie, des convulsions réfractaires, un retard de développement, une microcéphalie et une hypokinésie foetale sévère. Parmi les autres manifestations pouvant être observées figurent une apnée et des troubles respiratoires, une cataracte, des contractures articulaires, une hypoplasie du vermis, une dysmorphie (exotropie, palais ogival, micrognathie, clinodactylie des doigts, pli palmaire transverse unique) et des difficultés à s'alimenter. Des mutations de perte de fonction du gène <i>DPAGT1</i> (11q23.3) sont à l'origine de la maladie."},"de":{"name":"DPAGT1-CDG","synonyms":["CDG-Ij","CDG-Syndrom Typ Ij","CDG1J","Dolichol-Phosphat N-Acetylglucosamin 1-Phosphat-Transferase-Mangel","Kohlenhydrat-defizientes Glykoprotein-Syndrom Ij","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ij"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe angeborener Stoffwechselstörungen mit gestörter Synthese von Glykoproteinen. Das CDG-Syndrom Typ IIj (CDG 2J) ist gekennzeichnet durch Hypotonie, hartnäckige Krampfanfälle, Entwicklungsverzögerung, Mikrozephalie und schwere fetale Hypokinesie. Zu den weiteren Merkmalen, die beobachtet werden können, gehören Apnoe und Atemschwäche, Katarakte, Gelenkkontrakturen, Vermian-Hypoplasie, dysmorphe Merkmale (Esotropie, Gaumenwölbung, Mikrognathie, Klinodaktylie der Finger, einzelne Beugefalten) und Fütterungsprobleme. Ursache sind Funktionsverlust-Mutationen im <i>DPAGT1</i>-Gen, das in der Chromosomenregion 11q23.3 liegt und die UDP-GlcNAc: Dolichylphosphat-N-Acetylglucosamin- Phosphotransferase des endoplasmatischen Retikulums kodiert."},"es":{"name":"DPAGT1-CDG","synonyms":["CDG-Ij","CDG1J","Deficiencia de fosfotransferasa N-acetilglucosamina dolicil-fosfato","Síndrome CDG tipo Ij","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ij","Trastorno congénito de la glicosilación tipo 1j","Trastorno congénito de la glicosilación tipo Ij"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por hipotonía, convulsiones intratables, retraso en el desarrollo, microcefalia e hipocinesia fetal grave. También pueden presentarse hallazgos adicionales que incluyen apnea y deficiencia respiratoria, cataratas, contracturas articulares, hipoplasia vermiana, características dismórficas (esotropía, paladar arqueado, clinodactilia, pliegue de flexión único) y dificultades en la alimentación. La enfermedad está ocasionada por mutaciones de pérdida de función en el gen <i>DPAGT1</i> (11q23.3)."},"it":{"name":"DPAGT1-CDG","synonyms":["Disturbo congenito della glicosilazione, tipo 1j","Disturbo congenito della glicosilazione, tipo Ij","Sindrome CDG, tipo Ij","Sindrome delle glicoproteine carenti in carboidrati, tipo Ij","CDG-Ij","CDG1J","Deficit di dolichil-fosfato N-acetilgalattosamina fosfotransferasi"],"definition":"La DPAGT1-CDG è una malattia congenita della N-glicosilazione, caratterizzata da ipotonia, crisi epilettiche non trattabili, ritardo dello sviluppo, microcefalia e ipocinesia fetale grave. Altri segni clinici sono l'apnea e l'insufficienza respiratoria, la cataratta, le contratture articolari, l'ipoplasia del verme cerebellare, i dismorfismi (esotropia, palato ogivale, micrognazia, clinodattilia delle dita delle mani, linea delle quattro dita sul palmo delle mani) e difficoltà di alimentazione. La malattia è causata dalle mutazioni del gene<i>DPAGT1</i> (11q23.3)."},"nl":{"name":"DPAGT1-CDG","synonyms":["CDG-Ij","CDG-syndroom type Ij","CDG1J","Congenitale defecten van de glycosylering type 1j","Congenitale defecten van de glycosylering type Ij","Congenitale glycosylatiestoornis type 1j","Congenitale glycosylatiestoornis type Ij","Dolichylfosfaat N-acetylgalactosamine-fosfotransferasedeficiëntie","Koolhydraatdeficiënt glycoproteïne-syndroom type Ij"],"definition":"DPAGT1-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door hypotonie, onbehandelbare insulten, ontwikkelingsachterstand, microcefalie en ernstige foetale hypokinesie. Bijkomende kenmerken die kunnen waargenomen worden, zijn onder meer apneu en respiratoire deficiëntie, cataracten, gewrichtscontracturen, hypoplasie van de vermis, dysmorfe kenmerken (esotropie, gebogen verhemelte, micrognathie, clinodactylie van de vinger, enkelvoudige flexieplooien) en voedingsproblemen. De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>DPAGT1</i> (11q23.3)."},"pt":{"name":"DPAGT1-CDG","synonyms":["CDG-Ij","CDG1J","Deficiência de dolicil-fosfato N-acetilgalactosamina fosfotransferase","Doença congénita da glicosilação tipo 1j","Doença congénita da glicosilação tipo Ij","Síndrome CDG tipo Ij","Síndrome de proteína deficiente em carbohidratos tipo 1j"]},"pl":{"name":"DPAGT1-CDG","synonyms":["CDG1J","CDG-Ij","Niedobór fosfotransferazy dolicholofosforanu N-acetylogalaktozoaminy","Wrodzone zaburzenie glikozylacji 2j","Wrodzone zaburzenie glikozylacji IIj","Zespół CDG typu Ij","Zespół obniżonej glikozylacji glikoprotein typu Ij"]},"cs":{"name":"DPAGT1-CDG","synonyms":["CDG syndrom, typ Ij","CDG-Ij","CDG1J","Carbohydrate deficient glycoprotein syndrom type Ij","Vrozená porucha glykosylace, typ 1j","Vrozená porucha glykosylace, typ Ij","Deficit dolichyl-fosfát N-acetylgalaktosaminfosfotransferázy","Glykoproteinový syndrom deficitu sacharidů typu Ij"]},"uk":{"name":"DPAGT1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ij","Синдром CDG, тип Ij","CDG1J","CDG-Ij","Вроджене порушення глікозилювання типу 1j","Вроджене порушення глікозилювання типу Ij","Дефіцит доліхіл-фосфат N-ацетилгалактозамінфосфотрансферази"],"definition":"DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene <i>DPAGT1 </i> (11q23.3)."},"zh":{"name":"DRAGT1缺乏型先天性糖基化障碍","synonyms":["磷酸多糖- N-乙酰半乳糖胺磷酸转移酶缺乏症"]},"tr":{"name":"DPAGT1-CDG","synonyms":["CDG1J","CDG-Ij","CDG sendromu tip Ij","Doğumsal glikozilasyon tipi 1j bozukluğu","Doğumsal glikozilasyon tipi Ij bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ij","Dolikil-fosfat N-asetilgalaktozamin fosfotransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"608093","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":"409877897"},{"source":"MONDO","code":"0011964","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535748","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931004","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9837","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DPAGT1","name":"dolichyl-phosphate N-acetylglucosaminephosphotransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301507[PMID]","hgnc":"2995","ensembl":"ENSG00000172269","omim":"191350","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"26033833 [PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26033833 [PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-24","source":"20301507[PMID]_30117111[PMID]","terms":[{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012050","label":"Anasarca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012512","label":"Diffuse optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030213","label":"Emotional blunting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025534","label":"Ocular melanocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001976","label":"Reduced antithrombin III activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004855","label":"Reduced protein S activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001989","label":"Fetal akinesia sequence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012168","label":"Head-banging","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012172","label":"Stereotypical body rocking","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very rare (<4-1%)","criteria":null}]}}