{"orpha":244310,"name":"RFT1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type In","CDG-In","CDG1N","Carbohydrate deficient glycoprotein syndrome type In","Congenital disorder of glycosylation type 1n","Congenital disorder of glycosylation type In","Man5GlcNAc2-PP-Dol flippase deficiency"],"definition":"RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene <i>RFT1</i> (3p21.1).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-244310/","orphanet_url":"https://www.orpha.net/en/disease/detail/244310","names":{"fr":{"name":"Syndrome CDG-RFT1","synonyms":["Anomalie congénitale de la glycosylation type 1n","Anomalie congénitale de la glycosylation type In","CDG-In","CDG1N","Déficit en Man5GlcNAc2-PP-Dol flippase","Syndrome CDG type In","Syndrome des glycoprotéines déficientes en hydrates de carbone type In"],"definition":"Forme d'anomalie de la N-glycosylation caractérisée par une mauvaise coordination de la succion entraînant des difficultés à s'alimenter et un retard de croissance, des secousses myocloniques accompagnées d'hypotonie et de réflexes vifs évoluant vers un trouble convulsif, un regard errant, un retard de développement, un contact visuel faible ou absent et une perte auditive neurosensorielle. D'autres caractéristiques peuvent être observées, notamment des anomalies des facteurs de coagulation, des mamelons invaginés et une microcéphalie. La maladie est causée par des mutations du gène <i>RFT1</i> (3p21.1)."},"de":{"name":"RFT1-CDG","synonyms":["Kohlenhydrat-defizientes Glykoprotein-Syndrom In","Kongenitaler Defekt der Glycoproteinbiosynthese Typ In","Man(5)GlcNAc (2)-PP-Dol-Flippase-Mangel","CDG (Congenital Disorder of Glycosylation) Typ In","CDG-In","CDG-Syndrom Typ In","CDG1N"]},"es":{"name":"RFT1-CDG","synonyms":["CDG-In","CDG1N","Deficiencia de Man5GlcNAc2-PP-Dol flipasa","Síndrome CDG tipo In","Síndrome de glicoproteínas deficientes en carbohidratos tipo In","Trastorno congénito de la glicosilación tipo 1n","Trastorno congénito de la glicosilación tipo In"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por una succión poco coordinada que ocasiona dificultades en la alimentación y fallo de medro; sacudidas mioclónicas con hipotonía y reflejos enérgicos que progresan a un trastorno convulsivo; ojos errantes; retraso en el desarrollo; contacto visual de escaso a ausente; y pérdida auditiva neurosensorial. También se asocia a otros hallazgos adicionales que incluyen anomalías de los factores de coagulación pezones invertidos y microcefalia. La enfermedad está causada por mutaciones en el gen <i>RFT1</i>(3p21.1)."},"it":{"name":"RFT1-CDG","synonyms":["CDG-In","CDG1N","Deficit di Man5GlcNAc2-PP-Dol flippasi","Disturbo congenito della glicosilazione, tipo 1n","Disturbo congenito della glicosilazione, tipo In","Sindrome CDG, tipo In","Sindrome delle glicoproteine carenti in carboidrati, tipo In"],"definition":"La RFT1-CDG è una malattia congenita della N-glicosilazione, caratterizzata da scarsa coordinazione nella suzione, che causa difficoltà di alimentazione e ritardo della crescita; scosse miocloniche con ipotonia e velocizzazione dei riflessi, che progrediscono verso la malattia epilettica; movimenti oculari erratici; ritardo dello sviluppo; ridotto o assente contatto visivo; sordità neurosensoriale. Possono associarsi altri segni clinici, come le anomalie di fattori della coagulazione, i capezzoli introflessi e la microcefalia. La malattia è causata dalle mutazioni nel gene RFT1 (3p21.1)."},"nl":{"name":"RFT1-CDG","synonyms":["Congenitale glycosylatiestoornis type In","Koolhydraatdeficiënt glycoproteïne-syndroom type In","Man5GlcNAc2-PP-Dol-flippasedeficiëntie","CDG-In","CDG-syndroom type In","CDG1N","Congenitale defecten van de glycosylering type 1n","Congenitale defecten van de glycosylering type In","Congenitale glycosylatiestoornis type 1n"],"definition":"RFT1-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door slecht gecoördineerd zuigen, wat leidt tot voedingsproblemen en groeiachterstand; myoclonische schokbewegingen met hypotonie en krachtige reflexen die evolueren naar een stoornis met insulten; zwervende ogen; ontwikkelingsachterstand; ondermaats of afwezig visueel contact; en sensorineuraal gehoorverlies. Bijkomende kenmerken die eventueel kunnen waargenomen worden, zijn onder meer afwijkingen van coagulatiefactoren, inversie van de tepels, en microcefalie. De ziekte wordt veroorzaakt door mutaties in het gen <i>RFT1</i> (3p21.1)."},"pt":{"name":"Síndrome CDG, tipo In"},"pl":{"name":"RFT1-CDG","synonyms":["CDG1N","CDG-In","Niedobór flipazy Man5GlcNAc2-PP-Dol","Wrodzone zaburzenie glikozylacji typu 1n","Wrodzone zaburzenie glikozylacji typu In","Zespół CDG typu In","Zespół obniżonej glikozylacji glikoprotein typu In"]},"cs":{"name":"RTF1-CDG","synonyms":["CDG syndrom, typ In","CDG In","CDG1N","Syndrom karbohydrátového deficitu glykoproteinu, typ In","Vrozená porucha glykosylace, typ 1n","Vrozená porucha glykosylace, typ In","Man5GlcNAc2-PP-Dol"]},"uk":{"name":"RFT1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу В","Синдром CDG, тип В","CDG1N","CDG-In","Вроджене порушення глікозилювання типу 1n","Вроджене порушення глікозилювання типу В","Дефіцит фліппази Man5GlcNAc2-PP-Dol"],"definition":"RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene <i>RFT1</i> (3p21.1)."},"zh":{"name":"RFG1基因型先天性糖基化障碍","synonyms":["碳水化合物缺乏性糖蛋白综合征ln型"],"definition":"RFT1-CDG是一种先天性N-连接糖基化障碍，其特征是吸吮协调性差，导致进食困难和体重增长不良；肌阵挛抽搐伴肌张力低下和反射迅速，并进展为癫痫发作；眼神游动；发育迟缓；目视联系差至缺失；感音神经性听力丧失。其他可见特征包括凝血因子异常、乳头凹陷和小头畸形。这种疾病是由 RFT1 基因(3p21.1)突变引起的。"},"tr":{"name":"RFT1-CDG","synonyms":["CDG1N","CDG-In","CDG sendromu tip In","Man5GlcNAc2-PP-Dol flipaz eksikliği","Doğumsal glikozilasyon bozukluğu tip 1n","Doğumsal glikozilasyon bozukluğu tip In","Karbonhidrat eksikliği olan glikoprotein sendromu tip In"]}},"xrefs":[{"source":"OMIM","code":"612015","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":"210449818"},{"source":"MONDO","code":"0012783","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677590","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12394","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371212,"name":"Congenital disorder of glycosylation with deafness as a major feature","classifications":[147,156,200]},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"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":"RFT1","name":"RFT1 glycolipid translocator homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"30220","ensembl":"ENSG00000163933","omim":"611908","loci":["3p21.1"]}],"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":"23111317[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23111317[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-14","source":"23111317[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007146","label":"Bilateral basal ganglia lesions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Occasional (29-5%)","criteria":null}]}}