{"orpha":79333,"name":"COG7-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIe","CDG-IIe","CDG2E","Carbohydrate deficient glycoprotein syndrome type IIe","Congenital disorder of glycosylation type 2e","Congenital disorder of glycosylation type IIe"],"definition":"COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79333/","orphanet_url":"https://www.orpha.net/en/disease/detail/79333","names":{"fr":{"name":"COG7-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2e","Anomalie congénitale de la glycosylation type IIe","CDG-IIe","CDG2E","Syndrome CDG type IIe","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIe"],"definition":"COG7-CDG se caractérise par une dysmorphie, une dysplasie squelettique, une hypotonie, une hépatosplénomégalie, un ictère, une insuffisance cardiaque, des infections récurrentes et une épilepsie. Les cas de deux enfants, décédés dans les trois premiers mois de vie, ont été décrits à ce jour. Ce syndrome est dû à une mutation d'un gène situé sur le chromosome 16 et codant pour la COG-7, sous-unité du complexe oligomérique du Golgi (COG)."},"de":{"name":"COG7-CDG","synonyms":["CDG-IIe","CDG-Syndrom Typ IIe","CDG2E","Kohlenhydrat-defizientes Glykoprotein-Syndrom IIe","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIe"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe von autosomal-rezessiv vererbten Krankheiten mit gestörter Synthese von Glykoproteinen. Das CDG-Syndrom Typ IIe (CDG 2E) ist gekennzeichnet durch Dysmorphien, Skelettdysplasie, Muskelhypotonie, Hepato-splenomegalie, Ikterus, Herzinsuffizienz, rezidivierende Infekte und zerebrale Krampfanfälle."},"es":{"name":"COG7-CDG","synonyms":["CDG-IIe","CDG2E","Síndrome CDG tipo IIe","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIe","Trastorno congénito de la glicosilación tipo 2e","Trastorno congénito de la glicosilación tipo IIe"],"definition":"Es un trastorno caracterizado por dismorfia, displasia esquelética, hipotonía, hepatoesplenomegalia, ictericia, insuficiencia cardíaca, infecciones recurrentes y epilepsia. Hasta la fecha, se ha descrito en dos lactantes que fallecieron dentro de los primeros tres meses de vida. El síndrome está causado por una mutación en el gen (localizado en el cromosoma 16) que codifica la COG-7, una subunidad del complejo oligomérico de Golgi."},"it":{"name":"COG7-CDG","synonyms":["CDG-IIe","CDG2E","Disturbo congenito della glicosilazione, tipo 2e","Disturbo congenito della glicosilazione, tipo IIe","Sindrome CDG, tipo IIe","Sindrome delle glicoproteine carenti in carboidrati, tipo IIe"]},"nl":{"name":"COG7-CDG","synonyms":["CDG-IIe","CDG-syndroom type IIe","CDG2E","Congenitale defecten van de glycosylering type 2e","Congenitale defecten van de glycosylering type IIe","Congenitale glycosylatiestoornis type 2e","Congenitale glycosylatiestoornis type IIe","Koolhydraatdeficiënt glycoproteïne-syndroom type IIe"],"definition":"Een congenitaal defect van glycosylering, gekenmerkt door dysmorfie, skeletdysplasie, hypotonie, hepatosplenomegalie, geelzucht, cardiale insufficiëntie, recidiverende infecties, en epilepsie. Tot op heden werd COG7-CDG beschreven bij twee zuigelingen, die beiden stierven binnen hun eerste drie levensmaanden. Het syndroom wordt veroorzaakt door een mutatie in het gen dat codeert voor COG-7 (chromosoom 16), een subeenheid van het oligomere Golgi-complex."},"pt":{"name":"COG7-CDG","synonyms":["CDG-IIe","CDG2E","Doença congénita da glicosilação tipo 2e","Doença congénita da glicosilação tipo IIe","Síndrome CDG tipo IIe","Síndrome de glicoproteína deficiente em carbohidratos tipo IIe"]},"pl":{"name":"COG7-CDG","synonyms":["CDG2E","CDG-IIe","Wrodzone zaburzenie glikozylacji typu 2e","Wrodzone zaburzenie glikozylacji typu IIe","Zespół CDG typu Iie","Zespół obniżonej glikozylacji glikoprotein IIe"]},"cs":{"name":"COG7-CDG","synonyms":["CDG syndrom, typ IIe","CDG-IIe","CDG2E","Carbohydrate deficient glycoprotein syndrom type IIe","Vrozená porucha glykosylace, typ 2e","Vrozená porucha glykosylace, typ IIe","Syndrom s deficitem karbohydrátového glykoproteinu typ IIe"]},"uk":{"name":"COG7-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIe","Синдром CDG, тип IIe","CDG2E","CDG-IIe","Вроджене порушення глікозилювання типу 2e","Вроджене порушення глікозилювання типу IIe"],"definition":"COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex."},"zh":{"name":"先天性糖基化障碍2e型","synonyms":["糖蛋白缺乏综合征Ⅱe型"]},"tr":{"name":"COG7-CDG","synonyms":["CDG2E","CDG-IIe","CDG sendromu tip IIe","Glikozilasyon tip 2e'nin doğumsal bozukluğu","Glikozilasyon tip IIe'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIe"]}},"xrefs":[{"source":"OMIM","code":"608779","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":"808184224"},{"source":"MONDO","code":"0012118","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535754","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931010","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9842","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371183,"name":"Congenital disorder of glycosylation with cardiac malformation as a major feature","classifications":[147,148,156]},{"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":309568,"name":"Defect in conserved oligomeric Golgi complex","classifications":[150,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"COG7","name":"component of oligomeric golgi complex 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"18622","ensembl":"ENSG00000168434","omim":"606978","loci":["16p12.2"]}],"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":"19577670[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19577670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-04","source":"19577670[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012301","label":"Type II transferrin isoform profile","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}