{"orpha":263487,"name":"COG5-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIi","CDG-IIi","CDG2I","Carbohydrate deficient glycoprotein syndrome type IIi","Congenital disorder of glycosylation type 2i","Congenital disorder of glycosylation type IIi"],"definition":"COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263487/","orphanet_url":"https://www.orpha.net/en/disease/detail/263487","names":{"fr":{"name":"COG5-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2i","Anomalie congénitale de la glycosylation type IIi","CDG-IIi","CDG2I","Syndrome CDG type IIi","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIi"],"definition":"COG5-CDG, une forme extrêmement rare de l'anomalie congénitale de la glycosylation est caractérisée dans le seul cas rapporté jusqu'à présent par une déficience intellectuelle modérée, avec un langage lent et inarticulé, une ataxie troncale et une hypotonie modérée."},"de":{"name":"COG5-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ Iii","CDG-IIi","CDG-Syndrom Typ IIi","CDG2I","Kohlenhydrat-defizientes Glykoprotein-Syndrom Iii","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iii"],"definition":"Die Kongenitale Störung der Gykosylierung Typ IIi (CDG-IIi) ist eine extrem seltene Form des CDG-Syndroms (s. dort) und war bei dem einzigen bisher beschriebenen Fall klinisch gekennzeichnet durch moderate geistige Retardierung, langsame und verwaschene Sprache, Stammataxie und leichte Muskelhypotonie."},"es":{"name":"COG5-CDG","synonyms":["CDG-IIi","CDG2I","Síndrome CDG tipo IIi","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIi","Trastorno congénito de la glicosilación tipo 2i","Trastorno congénito de la glicosilación tipo IIi"],"definition":"El trastorno congénito de la glicosilación tipo IIi (CDG-IIi) es una forma extremadamente poco frecuente del síndrome CDG (consulte este término) que, en el único caso registrado hasta la fecha, se caracteriza clínicamente por retraso mental moderado con habla lenta e inarticulada, ataxia troncal e hipotonía leve."},"it":{"name":"COG5-CDG","synonyms":["CDG-IIi","CDG2I","Disturbo congenito della glicosilazione, tipo IIi","Sindrome CDG, tipo IIi","Sindrome delle glicoproteine carenti in carboidrati, tipo IIi"],"definition":"Il difetto congenito della glicosilazione tipo IIi (CDG-IIi) è una forma molto rara della sindrome CDG (si veda questo termine) caratterizzata, nell'unico paziente descritto, da ritardo mentale moderato con linguaggio lento e inarticolato, atassia del tronco e lieve ipotonia."},"nl":{"name":"COG5-CDG","synonyms":["CDG-IIi","CDG-syndroom type IIi","CDG2I","Congenitale defecten van de glycosylering type 2i","Congenitale defecten van de glycosylering type IIi","Congenitale glycosylatiestoornis type 2i","Congenitale glycosylatiestoornis type IIi","Koolhydraatdeficiënt glycoproteïne syndroom type IIi"],"definition":"Een uiterst zeldzame vorm van CDG-syndroom, klinisch gekenmerkt, bij het enige geval dat tot op heden gerapporteerd werd, door matige intellectuele achterstand met trage en onduidelijke spraak, rompataxie, en milde hypotonie."},"pt":{"name":"SíndromeCDG, tipo IIi"},"pl":{"name":"COG5-CDG","synonyms":["CDG2I","CDG-IIi","Zespół CDG typu IIi","Wrodzone zaburzenie glikozylacji typu 2i","Wrodzone zaburzenie glikozylacji typu IIi","Zespół obniżonej glikozylacji glikoprotein typu IIi"]},"cs":{"name":"COG5-CDG","synonyms":["CDG syndrom, typ IIi","CDG-IIi","CDG2I","Vrozená porucha glykosylace, typ IIi"]},"uk":{"name":"COG5-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIi","Синдром CDG тип IIIi","CDG2I","CDG-ІІІ","Вроджене порушення глікозилювання типу 2i","Вроджене порушення глікозилювання типу IIi"],"definition":"COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia."},"zh":{"name":"COG5基因型先天性糖基化障碍","synonyms":["糖基化缺陷糖蛋白综合征IIi型"],"definition":"COG5-先天性糖基化障碍是一种极为罕见的CDG综合征(见该词条)，临床特征为中度智力发育迟缓且说话不清晰、躯干性共济失调和轻度肌张力低下。"},"tr":{"name":"COG5-CDG","synonyms":["CDG2I","CDG-IIi","CDG sendromu tip IIi","Doğumsal glikozilasyon bozukluğu tip 2i","Doğumsal glikozilasyon bozukluğu tip IIi","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIi"]}},"xrefs":[{"source":"OMIM","code":"613612","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":"attributed","validated":true},{"source":"MONDO","code":"0013325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150876","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12348","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309568,"name":"Defect in conserved oligomeric Golgi complex","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COG5","name":"component of oligomeric golgi complex 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"14857","ensembl":"ENSG00000164597","omim":"606821","loci":["7q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"22516080[PMID]_23228021[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-17","source":"23228021[PMID]_20301507[PMID]_19690088[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003160","label":"Abnormal isoelectric focusing of serum transferrin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000599","label":"Abnormality of the frontal hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","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:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}