{"orpha":238459,"name":"SLC35A1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMP-sialic acid transporter deficiency","Carbohydrate deficient glycoprotein syndrome type IIf","Congenital disorder of glycosylation type 2f","Congenital disorder of glycosylation type IIf","CDG syndrome type IIf","CDG-IIf","CDG2F"],"definition":"SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238459/","orphanet_url":"https://www.orpha.net/en/disease/detail/238459","names":{"fr":{"name":"SLC35A1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2f","Anomalie congénitale de la glycosylation type IIf","CDG-IIf","CDG2F","Déficit en transporteur du CMP-acide sialique","Syndrome CDG type IIf","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIf"],"definition":"SLC35A1-CDG, une forme extrêmement rare de l'anomalie congénitale de la glycosylation est caractérisée dans le seul cas rapporté jusqu'à présent par des accidents hémorragiques répétés, incluant une hémorragie pulmonaire sévère."},"de":{"name":"SLC35A1-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ IIf","CDG-IIf","CDG-Syndrom Typ IIf","CDG2F","CMP-Sialinsäure-Ttransporter-Mangel","Kohlenhydrat-defizientes Glykoprotein-Syndrom IIf","Kongenitaler Defekt der Glycoproteinbiosynthese Typ 2f"],"definition":"Die Kongenitale Störung der Gykosylierung Typ IIf (CDG-IIf) ist eine extrem seltene Form des CDG-Syndroms (s. dort) und klinisch bei dem bisher einzigen beschriebenen Patienten gekennzeichnet durch wiederholte Blutungsereignisse, einschließlich schwerer Lungenblutungen."},"es":{"name":"SLC35A1-CDG","synonyms":["CDG-IIf","CDG2F","Deficiencia del transportador del CMP-ácido siálico","Síndrome CDG tipo IIf","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIf","Trastorno congénito de la glicosilación tipo 2f","Trastorno congénito de la glicosilación tipo IIf"],"definition":"El trastorno congénito de la glicosilación tipo IIf (CDG-IIf) es una forma extremadamente poco frecuente del síndrome CDG (consulte este término) que, en el único caso registrado, se caracteriza clínicamente por incidentes hemorrágicos repetidos, incluida hemorragia pulmonar grave."},"it":{"name":"SLC35A1-CDG","synonyms":["CDG-IIf","CDG2F","Deficit del trasportatore dell'acido CMP-sialico","Disturbo congenito della glicosilazione, tipo 2f","Disturbo congenito della glicosilazione, tipo IIf","Sindrome CDG, tipo IIf","Sindrome delle glicoproteine carenti in carboidrati, tipo IIf"],"definition":"Il difetto congenito della glicosilazione tipo IIf (CDG-IIf) è una forma molto rara della sindrome CDG (si veda questo termine) caratterizzata, nell'unico paziente descritto, da episodi emorragici recidivanti, compresa l'emorragia polmonare grave."},"nl":{"name":"SLC35A1-CDG","synonyms":["CDG-IIf","CDG-syndroom type IIf","CDG2F","CMP-sialinezuurtransporterdeficiëntie","Congenitale defecten van de glycosylering type 2f","Congenitale defecten van de glycosylering type IIf","Congenitale glycosylatiestoornis type 2f","Congenitale glycosylatiestoornis type IIf","Koolhydraatdeficiënt glycoproteïne syndroom type IIf"],"definition":"Een uiterst zeldzame vorm van CDG-syndroom, klinisch gekenmerkt, bij het enige geval dat werd gerapporteerd, door herhaaldelijke bloedingen, waaronder ernstige pulmonale hemorragie."},"pt":{"name":"Síndrome de CDG tipo IIf"},"pl":{"name":"SLC35A1-CDG","synonyms":["CDG2F","CDG-IIf","Niedobór transportera kwasu sialowego-CMP","Wrodzone zaburzenie glikozylacji typu 2f","Wrodzone zaburzenie glikozylacji typu IIf","Zespół CDG typu IIf","Zespół obniżonej glikozylacji glikoprotein typu IIf"]},"cs":{"name":"SLC35A1-CDG","synonyms":["CDG syndrom, typ IIf","CDG-IIf","CDG2F","Deficit transportéru CMP-kyseliny sialové","Syndrom karbohydrátového deficitu glykoproteinu, typ IIf","Vrozené poruchy glykosylace, typ 2f"]},"uk":{"name":"SLC35A1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIf","Синдром CDG, тип IIf","CDG2F","CDG-IIf","Дефіцит транспортера CMP-сіалової кислоти","Вроджене порушення глікозилювання типу 2f","Вроджене порушення глікозилювання типу IIf"],"definition":"SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage."},"zh":{"name":"SLC35A1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IIF型"],"definition":"SLC35A1-CDG是一种极其罕见的CDG综合征（见该词条），有一例病例报道，临床表现为反复出血，包括严重的肺出血。"},"tr":{"name":"SLC35A1-CDG","synonyms":["CDG2F","CDG-IIf","CDG sendromu tip IIf","CMP-sialik asit taşıyıcı eksikliği","Tip 2f'nin doğumsal bozukluğu","Tip IIf'nin doğumsal glikozilasyon bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIf"]}},"xrefs":[{"source":"OMIM","code":"603585","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":"480474610"},{"source":"MONDO","code":"0011342","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567040","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970344","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12409","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":371207,"name":"Congenital disorder of glycosylation with nephropathy as a major feature","classifications":[156,188]},{"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":"SLC35A1","name":"solute carrier family 35 member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"11021","ensembl":"ENSG00000164414","omim":"605634","loci":["6q15"]}],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"11157507[PMID]_23873973[PMID]_28856833[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11157507[PMID]_23873973[PMID]_28856833[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-10","source":"11157507[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012143","label":"Abnormal megakaryocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011883","label":"Abnormal platelet granules","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001902","label":"Giant platelets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040223","label":"Pulmonary hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null}]}}