{"orpha":79328,"name":"ALG9-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IL","CDG-IL","CDG1L","Carbohydrate deficient glycoprotein syndrome type IL","Congenital disorder of glycosylation type 1L","Mannosyltransferase 7-9 deficiency"],"definition":"A rare form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene <i>ALG9</i> (11q23).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79328/","orphanet_url":"https://www.orpha.net/en/disease/detail/79328","names":{"fr":{"name":"ALG9-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1L","Anomalie congénitale de la glycosylation type IL","CDG-IL","CDG1L","Déficit en mannosyltransférase 7-9","Syndrome CDG type IL","Syndrome des glycoprotéines déficientes en hydrates de carbone type IL"],"definition":"Forme rare d'anomalies congénitales de la N-glycosylation caractérisée par une microcéphalie progressive, une hypotonie, un retard de développement, une épilepsie infantile pharmacorésistante et une hépatomégalie. D'autres caractéristiques peuvent être observées, à savoir un retard de croissance, un épanchement péricardique, des kystes rénaux, une dysplasie squelettique, une dysmorphie faciale (front proéminent, hypertélorisme, arête nasale déprimée, oreilles d'implantation basse, grande bouche) et une anasarque foetale. Des mutations de perte de fonction du gène <i>ALG9</i> (11q23) sont à l'origine de l'anomalie."},"de":{"name":"ALG9-CDG","synonyms":["CDG-Syndrom Typ Il","CDG1L","Kohlenhydrat-defizientes Glykoprotein-Syndrom IL","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IL","Mannosyltransferase 7-9-Mangel","CDG-Il"],"definition":"Eine seltene Krankheit aus der Gruppe der Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome, die mit einer Störung der N-Glykosylierung von Proteinen einhergehen. . Das CDG-Syndrom Typ IL (CDG 1L) ist gekennzeichnet durch progressive Mikrozephalie, Hypotonie, Entwicklungsverzögerung, arzneimittelresistente Epilepsie im Kindesalter und Hepatomegalie. Zu den weiteren Merkmalen, die beobachtet werden können, gehören Gedeihstörung, Perikarderguss, Nierenzysten, Skelettdysplasie, Gesichtsdysmorphien (Balkonstirn, Hypertelorismus, vertiefter Nasenrücken, tiefsitzende Ohren, großer Mund) und Hydrops fetalis. Ursache des CDG 1L sind inaktivierende Mutationen im <i>ALG9</i>-Gen, das in der Chromosomenregion 11q23 liegt und die Alpha-1,2-Mannosyltransferase des endoplasmatischen Retikulums kodiert."},"es":{"name":"ALG9-CDG","synonyms":["CDG-IL","CDG1L","Deficiencia de manosiltransferasa 7-9","Síndrome CDG tipo IL","Síndrome de glicoproteínas deficientes en carbohidratos tipo IL","Trastorno congénito de la glicosilación tipo 1L"],"definition":"Es una forma poco frecuente de trastornos de la N-glicosilación caracterizado por microcefalia progresiva, hipotonía, retraso en el desarrollo, epilepsia infantil resistente a fármacos y hepatomegalia. También se pueden observar otros hallazgos adicionales que incluyen fallo de medro, derrame pericárdico, quistes renales, displasia esquelética, dismorfia facial (protuberancia frontal, hipertelorismo, puente nasal deprimido, orejas de implantación baja, boca grande) e hidropesía fetal. La enfermedad está causada por mutaciones de pérdida de función en el gen <i>ALG9</i> (11q23)."},"it":{"name":"ALG9-CDG","synonyms":["CDG-IL","CDG1L","Deficit di mannosiltransferasi 7-9","Disturbo congenito della glicosilazione, tipo 1L","Disturbo congenito della glicosilazione, tipo IL","Sidrome CDG, tipo IL","Sindrome delle glicoproteine carenti in carboidrati, tipo IL"],"definition":"La ALG9-CDG è una malattia congenita della N-glicosilazione, caratterizzata da microcefalia progressiva, ipotonia, ritardo dello sviluppo, epilessia neonatale resistente ai farmaci ed epatomegalia. Altri segni clinici comprendono il ritardo della crescita, il versamento pericardico, le cisti renali, la displasia scheletrica, i dismorfismi facciali (fronte bombata, ipertelorismo, sella nasale infossata, orecchie a basso impianto, bocca larga) e l'idrope fetale (si veda questo termine). La malattia è causata dalle mutazioni con perdita di funzione del gene <i>ALG9</i> (11q23)."},"nl":{"name":"ALG9-CDG","synonyms":["Congenitale glycosylatiestoornis type 1l","Congenitale glycosylatiestoornis type IL","Koolhydraatdeficiënt glycoproteïne-syndroom type IL","Mannosyltransferase-7-9-deficiëntie","CDG-IL","CDG-syndroom type IL","CDG1L","Congenitale defecten van de glycosylering type 1L","Congenitale defecten van de glycosylering type IL"],"definition":"Een zeldzame vorm van congenitale stoornis van N-glycosylatie, gekenmerkt door progressieve microcefalie, hypotonie, ontwikkelingsachterstand, infantiele epilepsie resistent tegen medicatie, en hepatomegalie. Bijkomende kenmerken die kunnen waargenomen worden, zijn onder meer niet-gedijen, pericardiale effusie, niercysten, skeletdysplasie, faciale dysmorfie (boller voorhoofd, hypertelorisme, ingezakte neusbrug, laagstaande oren, grote mond) en hydrops foetalis. De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>ALG9</i> (11q23)."},"pt":{"name":"ALG9-CDG","synonyms":["CDG-IL","CDG1L","Deficiência de manosiltransferase 7-9","Doença congénita da glicosilação tipo 1L","Síndrome CDG tipo IL","Síndrome de glicoproteína deficiente em carbohidratos tipo IL"],"definition":"Forma rara de doenças congénitas da glicosilação ligada ao N, caracterizada por microcefalia progressiva, hipotonia, atraso no desenvolvimento, epilepsia infantil resistente a medicamentos e hepatomegalia. Características adicionais observadas incluem atraso no crescimento, derrame pericárdico, quistos renais, displasia esquelética, dismorfismo facial (saliência frontal, hipertelorismo, ponte nasal deprimida, orelhas de implantação baixa, boca grande) e hidropisia fetal. A doença é causada por mutações de perda de função no gene ALG9 (11q23)."},"pl":{"name":"ALG9-CDG","synonyms":["CDG1L","CDG-IL","Zespół CDG typu IL","Niedobór mannozylotransferazy 7-9","Wrodzone zaburzenie glikozylacji typu 1L","Zespół obniżonej glikozylacji glikoprotein typu 1L"],"definition":"Rzadka postać wrodzonych zaburzeń N-glikozylacji charakteryzująca się postępującym małogłowiem, hipotonią, opóźnieniem rozwoju, lekooporną padaczka dziecięcą oraz hepatomegalią. Dodatkowe cechy obejmują brak prawidłowego rozwoju, wysięk osierdziowy, torbiele nerek, dysplazję szkieletową, dysmorfię twarzy (wystające czoło, hiperteloryzm, obniżona nasadę nosa, nisko osadzone uszy, duże usta) oraz obrzęk płodu. Choroba jest spowodowana mutacjami o typie loss-of-function w genie ALG9 inf brsup (11q23).inf brsup"},"cs":{"name":"ALG9-CDG","synonyms":["CDG syndrom, typ IL","CDG-IL","CDG1L","Carbohydrate deficient glycoprotein syndrom type IL","Vrozená porucha glykosylace, typ 1L","Vrozená porucha glykosylace, typ IL","Deficit mannosyltransferázy 7-9","Syndrom s deficitem karbohydrátového glykoproteinu typ IL"]},"uk":{"name":"ALG9-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IL","Синдром CDG, тип IL","CDG1L","CDG-IL","Вроджене порушення глікозилювання типу 1L","Дефіцит маннозилтрансферази 7-9"],"definition":"A rare form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene <i>ALG9</i> (11q23)."},"zh":{"name":"先天性糖基化障碍ALG9突变型","synonyms":["碳水化合物缺乏糖蛋白综合征IL型"]},"tr":{"name":"ALG9-CDG","synonyms":["CDG1L","CDG-IL","CDG sendromu tipi IL","Mannosiltransferaz 7-9 eksikliği","Tip 1L glikosilasyonun doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip IL"]}},"xrefs":[{"source":"OMIM","code":"263210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608776","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":"2996593"},{"source":"MONDO","code":"0012117","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535750","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9839","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":466732,"name":"OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome","status":"inactive"}],"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":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":"ALG9","name":"ALG9 alpha-1,2-mannosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301507[PMID]","hgnc":"15672","ensembl":"ENSG00000086848","omim":"606941","loci":["11q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"26453364[PMID]_28122681[PMID]_28932688[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28122681[PMID]_28932688[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-20","source":"28484880[PMID]_28932688[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011103","label":"Abnormal left ventricular outflow tract morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008776","label":"Abnormal renal artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007385","label":"Aplasia cutis congenita of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100865","label":"Broad ischia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001407","label":"Hepatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001234","label":"Hitchhiker thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005343","label":"Hypoplasia of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009004","label":"Hypoplasia of the musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008724","label":"Hypoplasia of the ovary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002265","label":"Large fleshy ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010763","label":"Low insertion of columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003375","label":"Narrow greater sciatic notch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001405","label":"Periportal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009487","label":"Ulnar deviation of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032464","label":"Ureteral hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011473","label":"Villous atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null}]}}