{"orpha":79327,"name":"ALG1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carbohydrate deficient glycoprotein syndrome type Ik","Congenital disorder of glycosylation type 1k","Congenital disorder of glycosylation type Ik","Mannosyltransferase 1 deficiency","CDG syndrome type Ik","CDG-Ik","CDG1K"],"definition":"A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene <i>ALG1</i> (16p13.3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79327/","orphanet_url":"https://www.orpha.net/en/disease/detail/79327","names":{"fr":{"name":"ALG1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1k","Anomalie congénitale de la glycosylation type Ik","CDG-Ik","CDG1K","Déficit en mannosyltransférase 1","Syndrome CDG type Ik","Syndrome des glycoprotéines déficientes en hydrates de carbone type Ik"],"definition":"Forme sévère d'anomalie congénitale de la N-glycosylation caractérisée par un retard psychomoteur et de développement sévères, une hypotonie musculaire, des crises convulsives réfractaires à début précoce et une microcéphalie. Parmi les autres manifestations figurent des troubles de la coagulation sanguine associés à un risque élevé d'hémorragies ou de thromboses, un syndrome néphrotique, des ascites, une hépatomégalie, une cardiomyopathie, des manifestations oculaires (strabisme, nystagmus) et une immunodéficience. Des mutations de perte de fonction du gène <i>ALG1</i> (16p13.3) sont à l'origine de la maladie."},"de":{"name":"ALG1-CDG","synonyms":["CDG-Ik","CDG-Syndrom Typ Ik","CDG1K","Kohlenhydrat-defizientes Glykoprotein-Syndrom Ik","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ik","Mannosyltransferase 1-Mangel"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe angeborener Stoffwechselstörungen mit gestörter Synthese von Glykoproteinen. Das CDH-Syndrom Typ Ik (CDG 1K) ist gekennzeichnet durch schwere Entwicklungsverzögerungen und psychomotorische Störungen, Muskelhypotonie, hartnäckige, früh einsetzende Krampfanfälle und Mikrozephalie. Weitere Merkmale sind eine veränderte Blutgerinnung mit einer hohen Wahrscheinlichkeit von Blutungen oder Thrombosen, ein nephrotisches Syndrom, Aszites, Hepatomegalie, Kardiomyopathie, Augenmanifestationen (Strabismus, Nystagmus) und Immundefekt. Ursache des CDG 1K sind inaktivierende Mutationen im <i>ALG</i>-Gen in der Chromosomenregion 16p13.3, das für die zytoplasmatische Beta-1, 4-Mannosyltransferase kodiert."},"es":{"name":"ALG1-CDG","synonyms":["CDG-Ik","CDG1K","Deficiencia de manosiltransferasa 1","Síndrome CDG tipo Ik","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ik","Trastorno congénito de la glicosilación tipo 1k","Trastorno congénito de la glicosilación tipo Ik"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por un importante retraso psicomotor y del desarrollo, hipotonía muscular, convulsiones intratables de inicio precoz y microcefalia. Otras características adicionales incluyen trastornos de la coagulación con una elevada probabilidad de hemorragias o trombosis, síndrome nefrótico, ascitis, hepatomegalia, miocardiopatía, manifestaciones oculares (estrabismo, nistagmo) e inmunodeficiencia. La enfermedad está causada por mutaciones de pérdida de función en el gen <i>ALG1</i> (16p13.3)."},"it":{"name":"ALG1-CDG","synonyms":["CDG-Ik","CDG1K","Deficit di mannosiltransferasi 1","Disturbo congenito della glicosilazione, tipo 1k","Disturbo congenito della glicosilazione, tipo Ik","Sindrome CDG, tipo Ik","Sindrome delle glicoproteine carenti in carboidrati, tipo Ik"],"definition":"L'ALG1-CDG è una malattia congenita della N-glicosilazione, caratterizzata da grave ritardo psicomotorio e dello sviluppo, ipotonia muscolare, crisi epilettiche non trattabili ad esordio precoce e microcefalia. Altri segni clinici comprendono le alterazioni della coagulazione del sangue, associate a un'elevata probabilità di emorragie o trombosi, la sindrome nefrosica, le asciti, l'epatomegalia, la cardiomiopatia, i segni oculari (strabismo, nistagmo) e l'immunodeficienza. La malattia è causata dalle mutazioni con perdita di funzione nel gene ALG1 (16p13.3)."},"nl":{"name":"ALG1-CDG","synonyms":["CDG-Ik","CDG-syndroom type Ik","CDG1K","Congenitale defecten van de glycosylering type 1k","Congenitale defecten van de glycosylering type Ik","Congenitale glycosylatiestoornis type 1k","Congenitale glycosylatiestoornis type Ik","Koolhydraatdeficiënt glycoproteïne-syndroom type Ik","Mannosyltransferase 1-deficiëntie"],"definition":"Een ernstige vorm van congenitale stoornis van N-glycosylatie, gekarakteriseerd door ernstige ontwikkelings- en psychomotorische achterstand, musculaire hypotonie, refractaire en vroeg aanvangende insulten, en microcefalie. Bijkomende kenmerken zijn onder meer gewijzigde bloedstolling met een hoge kans op bloedingen of tromboses, nefrotisch syndroom, ascites, hepatomegalie, cardiomyopathie, oculaire manifestaties (strabisme, nystagmus), en immuundeficiëntie. De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>ALG1</i> (16p13.3)."},"pt":{"name":"ALG1-CDG","synonyms":["CDG-Ik","CDG1K","Deficiência de manosiltransferase 1","Doença congénita da glicosilação tipo 1k","Doença congénita da glicosilação tipo Ik","Síndrome CDG tipo Ik","Síndrome de glicoproteína deficiente em carbohidratos tipo Ik"]},"pl":{"name":"ALG1-CDG","synonyms":["CDG1K","CDG-Ik","Niedobór mannozylotransferazy 1","Wrodzone zaburzenie glikozylacji typu 1k","Wrodzone zaburzenie glikozylacji typu Ik","Zespół CDG typu Ik","Zespół obniżonej glikozylacji glikoprotein typu Ik"]},"cs":{"name":"ALG1-CDG","synonyms":["CDG syndrom, typ Ik","CDG-Ik","CDG1K","Carbohydrate deficient glycoprotein syndrom type Ik","Vrozená porucha glykosylace, typ 1k","Vrozená porucha glykosylace, typ Ik","Deficit mannosyltransferázy 1","Syndrom s deficitem karbohydrátového glykoproteinu typ Ik"]},"uk":{"name":"ALG1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ik","Синдром CDG, тип Ik","CDG1K","CDG-Ik","Вроджене порушення глікозилювання типу 1k","Вроджене порушення глікозилювання типу Ik","Дефіцит маннозилтрансферази 1"],"definition":"A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene <i>ALG1</i> (16p13.3)."},"zh":{"name":"先天性糖基化障碍1k型","synonyms":["碳水化合物缺乏糖蛋白综合征Ik型"]},"tr":{"name":"ALG1-CDG","synonyms":["CDG1K","CDG-Ik","CDG sendromu tip Ik","Mannosiltransferaz 1 eksikliği","Glikozilasyon tip Ik'nin doğumsal bozukluğu","Glikozilasyon tip Ik'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ik"]}},"xrefs":[{"source":"OMIM","code":"608540","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":"836240672"},{"source":"MONDO","code":"0012052","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535749","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931005","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9838","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":"ALG1","name":"ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301507[PMID]","hgnc":"18294","ensembl":"ENSG00000033011","omim":"605907","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":57.0,"area":"Worldwide","status":"Validated","source":"26931382[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26931382[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-17","source":"20301507[PMID]_26931382[PMID]","terms":[{"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: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:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","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:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null}]}}