{"orpha":79322,"name":"DPM1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ie","CDG-Ie","CDG1E","Carbohydrate deficient glycoprotein syndrome type Ie","Congenital disorder of glycosylation type 1e","Congenital disorder of glycosylation type Ie","Dol-P-mannosyltransferase deficiency"],"definition":"A rare disorder of multiple glycosylation pathways characterized by global developmental delay, motor skills delay, hypotonia, seizures, microcephaly and eye abnormalities (including retinopathy, nystagmus, strabismus) with varying onset and severity. Additional clinical features may include peripheral neuropathy, dysmorphic features (facial and limb abnormalities), ataxia and severe gastrointestinal involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79322/","orphanet_url":"https://www.orpha.net/en/disease/detail/79322","names":{"fr":{"name":"DPM1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1e","Anomalie congénitale de la glycosylation type Ie","CDG-Ie","CDG1E","Déficit en Dol-P-mannosyltransférase","Syndrome CDG type Ie","Syndrome des glycoprotéines déficientes en hydrates de carbone type Ie"],"definition":"Anomalies multiples rares de la glycosylation, caractérisées par un retard global de développement, un retard moteur, une hypotonie, des convulsions, une microcéphalie et des anomalies oculaires (notamment une rétinopathie, un nystagmus et un strabisme), dont l'âge d'apparition et la sévérité varient. D'autres signes cliniques peuvent inclure une neuropathie périphérique, une dysmorphie (anomalies faciales et des membres), une ataxie et une atteinte gastro-intestinale sévère."},"de":{"name":"DPM1-CDG","synonyms":["CDG-Ie","CDG-Syndrom Typ Ie","CDG1E","Dol-P-Mannosyltransferase-Mangel","Kohlenhydrat-defizientes Glykoprotein-Syndrom Ie","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ie"],"definition":"Eine seltene kongenitale Glykosylierungsstörung, die durch globale Entwicklungsverzögerung, verzögerte motorische Fähigkeiten, Hypotonie, Krampfanfälle, Mikrozephalie und Augenanomalien (einschließlich Retinopathie, Nystagmus, Strabismus) mit unterschiedlichem Beginn und Schweregrad gekennzeichnet ist. Weitere klinische Merkmale können periphere Neuropathie, dysmorphe Merkmale (Anomalien im Gesicht und an den Gliedmaßen), Ataxie und schwere gastrointestinale Störungen sein."},"es":{"name":"DPM1-CDG","synonyms":["CDG-Ie","CDG1E","Deficiencia de Dol-P-manosiltransferasa","Síndrome CDG tipo Ie","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ie","Trastorno congénito de la glicosilación tipo 1e","Trastorno congénito de la glicosilación tipo Ie"],"definition":"Es un trastorno poco frecuente que afecta a múltiples vías de glicosilación caracterizado por retraso global del desarrollo y de las habilidades motoras, hipotonía, crisis epilépticas, microcefalia y anomalías oculares (incluyendo retinopatía, nistagmo y estrabismo) con inicio y gravedad variables. Las características clínicas adicionales pueden incluir neuropatía periférica, rasgos dismórficos (anomalías faciales y de las extremidades), ataxia y afectación gastrointestinal grave."},"it":{"name":"DPM1-CDG","synonyms":["CDG1E","Deficit di Dol-P-mannosiltransferasi","Disturbo congenito della glicosilazione, tipo 1e","Disturbo congenito della glicosilazione, tipo Ie","Sindrome CDG, tipo Ie","Sindrome delle glicoproteine carenti in carboidrati, tipo Ie","CDG-Ie"]},"nl":{"name":"DPM1-CDG","synonyms":["CDG-Ie","CDG-syndroom type Ie","CDG1E","Congenitale defecten van de glycosylering type 1e","Congenitale defecten van de glycosylering type Ie","Congenitale glycosylatiestoornis type 1e","Congenitale glycosylatiestoornis type Ie","Dol-P-mannosyltransferasedeficiëntie","Koolhydraatdeficiënt glycoproteïne-syndroom type Ie"],"definition":"Een zeldzame aandoening van meerdere glycosyleringsroutes, gekenmerkt door algehele ontwikkelingsachterstand, achterstand van motorische vaardigheden, hypotonie, insulten, microcefalie en oogafwijkingen (waaronder retinopathie, nystagmus, strabisme) met variabele aanvang en ernst. Mogelijke bijkomende klinische kenmerken zijn onder meer perifere neuropathie, dysmorfe kenmerken (afwijkingen van aangezicht en ledematen), ataxie en ernstige gastro-intestinale betrokkenheid."},"pt":{"name":"DPM1-CDG","synonyms":["CDG-Ie","CDG1E","Deficiência de Dol-P-manosiltransferase","Doença congénita da glicosilação tipo 1e","Doença congénita da glicosilação tipo Ie","Síndrome CDG tipo Ie","Síndrome de glicoproteína deficiente em carbohidratos tipo le"],"definition":"Perturbação de múltiplas vias da glicosilação, rara, caracterizada por atraso global do desenvolvimento, atraso nas capacidades motoras, hipotonia, convulsões, microcefalia e anomalias oculares (incluindo retinopatia, nistagmo, estrabismo) com início e gravidade variáveis. As características clínicas adicionais podem incluir neuropatia periférica, características dismórficas (anormalidades faciais e dos membros), ataxia e envolvimento gastrointestinal grave."},"pl":{"name":"DPM1-CDG","synonyms":["CDG1E","CDG-Ie","Niedobór Dol-P-mannozylotransferazy","Wrodzone zaburzenie glikozylacji typu 1e","Wrodzone zaburzenie glikozylacji typu Ie","Zespół CDG typu Ie","Zespół obniżonej glikozylacji glikoprotein typu Ie"],"definition":"Rzadkie zaburzenie wielościeżkowej glikozylacji charakteryzujące się globalnym opóźnieniem rozwoju, w tym ruchowego, hipotonią, drgawkami, małogłowiem i nieprawidłowościami dotyczącymi oczu (retinopatia, oczopląs, zez) o różnym początku i nasileniu. Dodatkowe objawy kliniczne mogą obejmować neuropatię obwodową, cechy dysmorfii (nieprawidłowości twarzy i kończyn), ataksję oraz ciężkie zaburzenia żołądkowo-jelitowe."},"cs":{"name":"DPM1-CDG","synonyms":["CDG syndrom, typ Ie","CDG-Ie","CDG1E","Carbohydrate deficient glycoprotein syndrom type Ie","Vrozená porucha glykosylace, typ 1e","Vrozená porucha glykosylace, typ Ie","Deficit Dol-P-mannosyltransferázy","Syndrom s deficitem karbohydrátového glykoproteinu typ Ie"]},"uk":{"name":"DPM1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ie","Синдром CDG тип Ie","CDG1E","CDG-Ie","Вроджене порушення глікозилювання типу 1e","Вроджене порушення глікозилювання типу Ie","Дефіцит Dol-Р-манозилтрансферази"],"definition":"A rare disorder of multiple glycosylation pathways characterized by global developmental delay, motor skills delay, hypotonia, seizures, microcephaly and eye abnormalities (including retinopathy, nystagmus, strabismus) with varying onset and severity. Additional clinical features may include peripheral neuropathy, dysmorphic features (facial and limb abnormalities), ataxia and severe gastrointestinal involvement."},"zh":{"name":"先天性糖基化障碍1e型","synonyms":["碳水化合物缺乏糖蛋白综合征Ie型"]},"tr":{"name":"DPM1-CDG","synonyms":["CDG1E","CDG-Ie","CDG sendromu tip Ie","Dol-P-mannosiltransferaz eksikliği","Tip 1e'nin doğumsal bozukluğu","Doğumsal glikozilasyon tipi Ie bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ie"]}},"xrefs":[{"source":"OMIM","code":"608799","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"561449953"},{"source":"MONDO","code":"0012123","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837396","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9831","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":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":"DPM1","name":"dolichyl-phosphate mannosyltransferase subunit 1, catalytic","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"3005","ensembl":"ENSG00000000419","omim":"603503","loci":["20q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"27481510[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27481510[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-27","source":"27481510[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100321","label":"Abnormality of the dentate nucleus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","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:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001976","label":"Reduced antithrombin III activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005543","label":"Reduced protein C activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004855","label":"Reduced protein S activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025404","label":"Abnormal visual fixation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011152","label":"Early onset absence seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007333","label":"Hypoplasia of the frontal lobes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001847","label":"Long hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006879","label":"Pontocerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002057","label":"Prominent glabella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010806","label":"U-Shaped upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}