{"orpha":79323,"name":"MPDU1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type If","CDG-If","CDG1F","Carbohydrate deficient glycoprotein syndrome type If","Congenital disorder of glycosylation type 1f","Congenital disorder of glycosylation type If"],"definition":"A rare disorder of multiple-pathway glycosylation characterised by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79323/","orphanet_url":"https://www.orpha.net/en/disease/detail/79323","names":{"fr":{"name":"MPDU1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1f","Anomalie congénitale de la glycosylation type If","CDG-If","CDG1F","Syndrome CDG type If","Syndrome des glycoprotéines déficientes en hydrates de carbone type If"],"definition":"Maladie rare affectant plusieurs voies de glycosylation caractérisée par un retard psychomoteur, des crises convulsives, un retard de croissance, une cardiomyopathie et des anomalies cutanées à type d'ichtyose."},"de":{"name":"MPDU1-CDG","synonyms":["CDG-If","CDG-Syndrom Typ If","CDG1F","Kohlenhydrat-defizientes Glykoprotein-Syndrom If","Kongenitaler Defekt der Glycoproteinbiosynthese Typ If"],"definition":"Eine kongenitale Glykosylierungsstörung, die durch psychomotorische Verzögerung, Krampfanfälle, Gedeihstörung, Kardiomyopathie und ichthyoseähnliche Hautanomalien gekennzeichnet ist."},"es":{"name":"MPDU1-CDG","synonyms":["Síndrome CDG tipo If","Síndrome de glicoproteínas deficientes en carbohidratos tipo If","Trastorno congénito de la glicosilación tipo 1f","Trastorno congénito de la glicosilación tipo If","CDG-If","CDG1F"],"definition":"Es un trastorno poco frecuente que afecta a múltiples vías de glicosilación caracterizado por retraso psicomotor, crisis epilépticas, retraso del crecimiento, miocardiopatía y anomalías cutáneas similares a la ictiosis."},"it":{"name":"MPDU1-CDG","synonyms":["CDG-If","CDG1F","Disturbo congenito della glicosilazione, tipo 1f","Disturbo congenito della glicosilazione, tipo If","Sindrome CDG, tipo If","Sindrome delle glicoproteine carenti in carboidrati, tipo If"]},"nl":{"name":"MPDU1-CDG","synonyms":["CDG-If","CDG-syndroom type If","CDG1F","Congenitale defecten van de glycosylering type 1f","Congenitale defecten van de glycosylering type If","Congenitale glycosylatiestoornis type 1f","Congenitale glycosylatiestoornis type If","Koolhydraatdeficiënt glycoproteïne-syndroom type If"],"definition":"Een zeldzame stoornis van meerdere glycosyleringsroutes, gekenmerkt door psychomotorische achterstand, insulten, niet-gedijen, cardiomyopathie, en op ichthyosis gelijkende cutane anomalieën."},"pt":{"name":"MPDU1-CDG","synonyms":["CDG-If","CDG1F","Doença congénita da glicosilação tipo 1f","Doença congénita da glicosilação tipo If","Síndrome CDG tipo If","Síndrome de glicoproteína deficiente em carbohidratos tipo If"],"definition":"Doença rara da glicosilação de múltiplas vias caracterizado por atraso psicomotor, convulsões, atraso de crescimento, cardiomiopatia e anomalias cutâneas semelhantes à ictiose."},"pl":{"name":"MPDU1-CDG","synonyms":["CDG1F","CDG-If","Wrodzone zaburzenie glikozylacji typu 1f","Wrodzone zaburzenie glikozylacji typu If","Zespół CDG typu If","Zespół obniżonej glikozylacji glikoprotein typu If"],"definition":"Rzadkie zaburzenie wieloszlakowej glikozylacji, charakteryzujące się opóźnieniem psychoruchowym, drgawkami, brakiem prawidłowego rozwoju, kardiomiopatią i anomaliami skórnymi przypominającymi rybią łuskę."},"cs":{"name":"MPDU1-CDG","synonyms":["CDG syndrom, typ If","CDG-If","CDG1F","Carbohydrate deficient glycoprotein syndrom type If","Vrozená porucha glykosylace, typ 1f","Vrozená porucha glykosylace, typ If","Syndrom s deficitem karbohydrátového glykoproteinu typ If"]},"uk":{"name":"MPDU1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий тип синдрому If","Синдром CDG тип If","CDG1F","CDG-If","Вроджене порушення глікозилювання типу 1f","Вроджене порушення типу глікозилювання Якщо"],"definition":"A rare disorder of multiple-pathway glycosylation characterised by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies."},"zh":{"name":"先天性糖基化障碍1f型","synonyms":["碳水化合物缺乏糖蛋白综合征If型"]},"tr":{"name":"MPDU1-CDG","synonyms":["CDG1F","CDG-If","CDG sendromu tip If","Glikozilasyon tip 1f'nin doğumsal bozukluğu","Glikozilasyon tip If'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tipi If"]}},"xrefs":[{"source":"OMIM","code":"609180","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":"2086182172"},{"source":"MONDO","code":"0012211","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535744","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836669","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9832","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":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"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":"MPDU1","name":"mannose-P-dolichol utilization defect 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"7207","ensembl":"ENSG00000129255","omim":"604041","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"28122681[PMID]_28940310[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28122681[PMID]_28940310[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-01","source":"11733564[PMID]_28484880[PMID]_28122681[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003642","label":"Type I transferrin isoform profile","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008529","label":"Absence of acoustic reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000242","label":"Parietal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005478","label":"Prominent frontal sinuses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000803","label":"Renal cortical cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007965","label":"Undetectable visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null}]}}