{"orpha":79320,"name":"ALG6-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ic","CDG-Ic","CDG1C","Carbohydrate deficient glycoprotein syndrome type Ic","Congenital disorder of glycosylation type 1c","Congenital disorder of glycosylation type Ic","Glucosyltransferase 1 deficiency"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene <i>ALG6</i> (1p31.3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79320/","orphanet_url":"https://www.orpha.net/en/disease/detail/79320","names":{"fr":{"name":"ALG6-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1c","Anomalie congénitale de la glycosylation type Ic","CDG-Ic","CDG1C","Déficit en glucosyltransférase 1","Syndrome CDG type Ic","Syndrome des glycoprotéines déficientes en hydrates de carbone type Ic"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par des difficultés à s'alimenter, une atteinte neurologique légère à modérée avec hypotonie, des difficultés à contrôler la tête, un retard de développement, une ataxie, un strabisme et des crises, allant des convulsions fébriles à l'épilepsie. Des cas de dégénérescence rétinienne ont été décrits. Un nombre limité de patients présente d'autres signes cliniques, principalement une atteinte intestinale (entéropathie avec perte de protéines) et hépatique. La maladie est causée par des mutations de perte de fonction du gène&nbsp;<i>ALG6</i> (1p31.3)."},"de":{"name":"ALG6-CDG","synonyms":["CDG-Ic","CDG-Syndrom Typ Ic","CDG1C","Glukosyltransferase 1-Mangel","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ic","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ic"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe angeborener Stoffwechselstörungen mit gestörter Synthese von Glykoproteinen. Das CDG-Syndrom Typ Ic (CDG 1C) ist gekennzeichnet durch Fütterungsprobleme, leichte bis mittelschwere neurologische Beeinträchtigungen mit Hypotonie, schlechter Kopfkontrolle, Entwicklungsverzögerung, Ataxie, Strabismus und Krampfanfällen, die von Fieberkrämpfen bis hin zu Epilepsie reichen. Es wurde auch über Netzhautdegenerationen berichtet. Bei einer Minderheit der Patienten treten andere Symptome auf, insbesondere Darm- (z. B. Proteinverlust-Enteropathie) und Leberbeteiligung. Ursache des CDG 1C sind inaktivierende Mutationen im <i>ALG6</i>-Gen, das in der Chromosomenregion 1q22.3 liegt und die Alpha-1,3-Glykosyltransferase des endoplasmatischen Retikulums kodiert."},"es":{"name":"ALG6-CDG","synonyms":["Deficiencia de glucosiltransferasa 1","Síndrome CDG tipo Ic","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ic","Trastorno congénito de la glicosilación tipo 1c","Trastorno congénito de la glicosilación tipo Ic","CDG-Ic","CDG1C"],"definition":"Es un tipo de trastorno congénito de la N-glicosilación caracterizado por problemas en la alimentación, afectación neurológica de leve a moderada acompañada de hipotonía, falta de control de la cabeza, retraso en el desarrollo, ataxia, estrabismo y crisis, que varían desde convulsiones febriles hasta epilepsia. También se ha descrito degeneración retiniana. Una minoría de pacientes muestra otros hallazgos, particularmente intestinales (como enteropatía con pérdida proteica) y afectaciones hepáticas. La enfermedad está causada por mutaciones de pérdida de función del gen <i>ALG6</i> (1p31.3)."},"it":{"name":"ALG6-CDG","synonyms":["CDG-Ic","CDG1C","Deficit di glucosiltransferasi 1","Disturbo congenito della glicosilazione, tipo Ic","Disturbo congenito della glisosilazione, tipo 1c","Sindrome CDG, tipo Ic","Sindrome delle glicoproteine carenti in carboidrati, tipo Ic"],"definition":"L'ALG6-CDG è una patologia congenita della N-glicosilazione, caratterizzata da problemi di alimentazione, interessamento neurologico lieve o moderato con ipotonia, scarso controllo del capo, ritardo dello sviluppo, atassia, strabismo e crisi epilettiche, di natura eterogenea, dalle convulsioni febbrili all'epilessia. Sono stati descritti casi di degenerazione retinica. Un numero limitato di pazienti presenta altri segni clinici, soprattutto intestinali (enteropatia con perdita di proteine) e interessamento epatico. La malattia è causata da alcune mutazioni con perdita di funzione nel gene <i>ALG6</i> (1p31.3)."},"nl":{"name":"ALG6-CDG","synonyms":["CDG-Ic","CDG-syndroom type Ic","CDG1C","Congenitale defecten van de glycosylering type 1c","Congenitale defecten van de glycosylering type Ic","Congenitale glycosylatiestoornis type 1c","Congenitale glycosylatiestoornis type Ic","Glucosyltransferase 1-deficiëntie","Koolhydraatdeficiënt glycoproteïne-syndroom type Ic"],"definition":"Een vorm van congenitale stoornis van N-glycosylatie, gekarakteriseerd door voedingsproblemen, milde tot matige neurologische betrokkenheid met hypotonie, ondermaatse hoofdcontrole, ontwikkelingsachterstand, ataxie, strabisme, en insulten, gaande van febriele convulsies tot epilepsie. Degeneratie van netvlies werd ook reeds gerapporteerd. Een minderheid van de patiënten toont andere manifestaties, voornamelijk betrokkenheid van darm (zoals eiwitverliezende enteropathie) en lever. De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>ALG6</i> (1p31.3)."},"pt":{"name":"ALG6-CDG","synonyms":["CDG-Ic","CDG1C","Deficiência de glucosiltransferase 1","Doença congénita da glicosilação tipo 1c","Doença congénita da glicosilação tipo Ic","Síndrome CDG tipo Ic","Síndrome de glicoproteína deficiente em carbohidratos tipo Ic"]},"pl":{"name":"ALG6-CDG","synonyms":["CDG1C","CDG-Ic","Niedobór glukozylotransferazy 1","Wrodzone zaburzenie glikozylacji typu 1c","Wrodzone zaburzenie glikozylacji typu Ic","Zespół CDG typu Ic","Zespół obniżonej glikozylacji glikoprotein typu Ic"]},"cs":{"name":"ALG6-CDG","synonyms":["CDG syndrom, typ Ic","CDG-Ic","CDG1C","Carbohydrate deficient glycoprotein syndrom type Ic","Vrozená porucha glykosylace, typ 1c","Vrozená porucha glykosylace, typ Ic","Deficit glukosyltransferázy 1","Syndrom s deficitem karbohydrátového glykoproteinu typ Ic"]},"uk":{"name":"ALG6-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ic","Синдром CDG тип Ic","CDG1C","CDG-Ic","Вроджене порушення глікозилювання типу 1c","Вроджене порушення глікозилювання типу Ic","Дефіцит глюкозилтрансферази 1"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene <i>ALG6</i> (1p31.3)."},"zh":{"name":"先天性糖基化障碍1c型","synonyms":["碳水化合物缺乏糖蛋白综合征Ic型"]},"tr":{"name":"ALG6-CDG","synonyms":["CDG1C","CDG-Ic","CDG sendromu tip Ic","Glukosiltransferaz 1 eksikliği","Tip 1c'nin doğumsal bozukluğu","Tip Ic'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ic"]}},"xrefs":[{"source":"OMIM","code":"603147","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":"603963810"},{"source":"MONDO","code":"0011291","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930997","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9829","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":371188,"name":"Congenital disorder of glycosylation with intestinal involvement","classifications":[152,156]},{"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":"ALG6","name":"ALG6 alpha-1,3-glucosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301507[PMID]","hgnc":"23157","ensembl":"ENSG00000088035","omim":"604566","loci":["1p31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":54.0,"area":"Worldwide","status":"Validated","source":"25052310[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25052310[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-10","source":"28108845[PMID]_34441372[PMID]_30740408[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040246","label":"Reduced antithrombin antigen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001929","label":"Reduced factor XI activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005543","label":"Reduced protein C activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004855","label":"Reduced protein S activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006118","label":"Shortening of all distal phalanges of the fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003642","label":"Type I transferrin isoform profile","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003563","label":"Decreased LDL cholesterol concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008373","label":"Puberty and gonadal disorders","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}