{"orpha":79321,"name":"ALG3-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Id","CDG-Id","CDG1D","Carbohydrate deficient glycoprotein syndrome type Id","Congenital disorder of glycosylation type 1d","Congenital disorder of glycosylation type Id","Mannosyltransferase 6 deficiency"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene <i>ALG3</i> (3q27.3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79321/","orphanet_url":"https://www.orpha.net/en/disease/detail/79321","names":{"fr":{"name":"ALG3-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1d","Anomalie congénitale de la glycosylation type Id","CDG-Id","CDG1D","Déficit en mannosyltransférase 6","Syndrome CDG type Id","Syndrome des glycoprotéines déficientes en hydrates de carbone type Id"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par une atteinte neurologique grave, notamment une hypotonie, un retard de développement, une déficience intellectuelle, une microcéphalie postnatale et une atrophie progressive du cerveau et du cervelet. L'épilepsie avec hypsarrythmie est fréquemment rapportée. D'autres caractéristiques peuvent être observées, notamment un retard de croissance, une arthrogrypose multiple congénitale (AMC), des troubles de la vision (atrophie optique, colobome de l'iris) et une dysmorphie faciale (hypertélorisme avec un large pont nasal, oreilles grandes et épaisses, lèvres fines, micrognathie). La maladie est causée par des mutations de perte de fonction du gène&nbsp;<i>ALG3</i> (3q27.3)."},"de":{"name":"ALG3-CDG","synonyms":["CDG-Id","CDG-Syndrom Typ Id","CDG1D","Kohlenhydrat-defizientes Glykoprotein-Syndrom Id","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Id","Mannosyltransferase 6-Mangel"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe angeborener Stoffwechselstörungen mit gestörter Synthese von Glykoproteinen. Das CDG-Syndrom Typ Id (CDG 1D) ist gekennzeichnet durch eine schwere neurologische Beeinträchtigung, einschließlich Hypotonie, Entwicklungsverzögerung, Intelligenzminderung, postnataler Mikrozephalie und fortschreitender Gehirn- und Kleinhirnatrophie. Epilepsie mit Hypsarrythmie wird häufig berichtet. Weitere Merkmale, die beobachtet werden können, sind Gedeihstörungen, Arthrogryposis multiplex congenita (AMC), Sehstörungen (Optikusatrophie, Iris-Kolobom) und Gesichtsdysmorphien (Hypertelorismus mit breitem Nasenrücken, große und dicke Ohren, dünne Lippen, Mikrognathie). Ursache des CDG 1D sind inaktivierende Mutationen im <i> ALG3</i>-Gen, das in der Chromosomenregion 3q27 liegt und eine der Mannosyltransferasen des endoplasmatischen Retikulums kodiert."},"es":{"name":"ALG3-CDG","synonyms":["CDG-Id","CDG1D","Deficiencia de manosiltransferasa 6","Síndrome CDG tipo Id","Síndrome de glicoproteínas deficientes en carbohidratos tipo Id","Trastorno congénito de la glicosilación tipo 1d","Trastorno congénito de la glicosilación tipo Id"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por afectación neurológica grave, que incluye hipotonía, retraso en el desarrollo, discapacidad intelectual, microcefalia postnatal y atrofia progresiva del cerebro y del cerebelo. Se asocia con frecuencia con epilepsia acompañada de hipsarritmia. También pueden observarse otras características adicionales tales como fallo de medro, artrogriposis múltiple congénita (AMC), alteración visual (atrofia óptica, coloboma del iris) y dismorfia facial (hipertelorismo con puente nasal ancho, orejas grandes y gruesas, labios delgados y micrognatia). Esta enfermedad está causada por mutaciones de pérdida de función del gen <i>ALG3</i> (3q27.3)."},"it":{"name":"ALG3-CDG","synonyms":["CDG-Id","CDG1D","Deficit di mannosiltransferasi 6","Disturbo congenito della glicosilazione, tipo 1d","Disturbo congenito della glicosilazione, tipo Id","Sindrome CDG, tipo Id","Sindrome delle glicoproteine carenti in carboidrati, tipo Id"],"definition":"L'ALG3-CDG è una malattia congenita della N-glicosilazione, caratterizzata da grave compromissione neurologica con ipotonia, ritardo dello sviluppo, disabilità intellettiva, microcefalia postnatale e atrofia cerebrale e cerebellare progressiva. Spesso i pazienti presentano epilessia e ipsaritmia. Possono associarsi altri segni clinici, come il ritardo della crescita, l'artrogriposi multipla congenita (AMC; si veda questo termine), la compromissione della vista (atrofia ottica, coloboma dell'iride) e i dismorfismi facciali (ipertelorismo con sella nasale larga, orecchie grandi e ispessite, labbra sottili, micrognazia). L'ALG3-CDG è causata dalle mutazioni con perdita di funzione nel gene ALG3 (3q27.3)."},"nl":{"name":"ALG3-CDG","synonyms":["CDG-Id","CDG-syndroom type Id","CDG1D","Congenitale defecten van de glycosylering type 1d","Congenitale defecten van de glycosylering type Id","Congenitale glycosylatiestoornis type 1d","Congenitale glycosylatiestoornis type Id","Koolhydraatdeficiënt glycoproteïne-syndroom type Id","Mannosyltransferase 6-deficiëntie"],"definition":"Een vorm van congenitale stoornis van N-glycosylatie, gekarakteriseerd door ernstige neurologische betrokkenheid, inclusief hypotonie, ontwikkelingsachterstand, intellectuele achterstand, postnatale microcefalie, en progressieve atrofie van hersenen en cerebellum. Epilepsie met hypsaritmie wordt frequent gerapporteerd. Bijkomende kenmerken die eventueel kunnen waargenomen worden, zijn onder meer groeifalen, arthrogryposis multiplex congenita (AMC), verlies van gezichtsvermogen (opticusatrofie, iriscoloboom) en faciale dysmorfie (hypertelorisme met een brede neusbrug, grote en dikke oren, dunne lippen, micrognathie). De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>ALG3</i> (3q27.3)."},"pt":{"name":"ALG3-CDG","synonyms":["CDG-Id","CDG1D","Deficiência em manosiltransferase 6","Doença congénita da glicosilação tipo 1d","Doença congénita da glicosilação tipo Id","Síndrome CDG tipo Id","Síndrome de glicoproteína deficiente em carbohidratos tipo Id"]},"pl":{"name":"ALG3-CDG","synonyms":["CDG1D","CDG-Id","Niedobór mannozylotransferazy 6","Wrodzone zaburzenie glikozylacji typu 1d","Wrodzone zaburzenie glikozylacji typu Id","Zespół CDG typu Id","Zespół obniżonej glikozylacji glikoprotein typu Id"]},"cs":{"name":"ALG3-CDG","synonyms":["CDG syndrom, typ Id","CDG-Id","CDG1D","Carbohydrate deficient glycoprotein syndrom type Id","Vrozená porucha glykosylace, typ 1d","Vrozená porucha glykosylace, typ Id","Deficit mannosyltransferázy 6","Syndrom s deficitem karbohydrátového glykoproteinu typ Id"]},"uk":{"name":"ALG3-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром, тип Id","Тип синдрому CDG Id","CDG1D","CDG-Id","Вроджене порушення глікозилювання типу 1d","Вроджене порушення типу глікозилювання Id","Дефіцит маннозилтрансферази 6"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene <i>ALG3</i> (3q27.3)."},"zh":{"name":"先天性糖基化障碍1d型","synonyms":["碳水化合物缺乏糖蛋白综合征Id型"]},"tr":{"name":"ALG3-CDG","synonyms":["CDG1D","CDG-Id","CDG sendromu tip Id","Mannoziltransferaz 6 eksikliği","Glikozilasyon tip 1d'nin doğumsal bozukluğu","Glikozilasyon tip Id'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Id"]}},"xrefs":[{"source":"OMIM","code":"601110","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":"1699521762"},{"source":"MONDO","code":"0010998","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832736","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9827","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":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":"ALG3","name":"ALG3 alpha-1,3- mannosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301507[PMID]","hgnc":"23056","ensembl":"ENSG00000214160","omim":"608750","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"28122681[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28122681[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-13","source":"31067009[PMID]_33583022[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002060","label":"Abnormal cerebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002813","label":"Abnormality of limb bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045005","label":"Neural tube defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000172","label":"Abnormality of the uvula","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012305","label":"Coarctation of the descending aortic arch","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005871","label":"Metaphyseal chondrodysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}