{"orpha":79325,"name":"ALG8-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ih","CDG-Ih","CDG1H","Carbohydrate deficient glycoprotein syndrome type Ih","Congenital disorder of glycosylation type 1h","Congenital disorder of glycosylation type Ih","Glucosyltransferase 2 deficiency"],"definition":"A rare form of congenital disorders of N-linked glycosylation characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene <i>ALG8</i> (11q14.1), resulting in a block in the initial step of protein glycosylation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79325/","orphanet_url":"https://www.orpha.net/en/disease/detail/79325","names":{"fr":{"name":"ALG8-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1h","Anomalie congénitale de la glycosylation type Ih","CDG-Ih","CDG1H","Déficit en glucosyltransférase 2","Syndrome CDG type Ih","Syndrome des glycoprotéines déficientes en hydrates de carbone Ih"],"definition":"Forme rare d'anomalies congénitales de la N-glycosylation qui se caractérise par des troubles gastro-intestinaux (diarrhée, vomissements, problèmes à s'alimenter avec retard de croissance, entéropathie par perte de protéines), oedème et ascite (y compris l'anasarque foetale), hépatomégalie, tubulopathie rénale, anomalies de la coagulation dues à la thrombocytopénie, atteinte cérébrale (retard psychomoteur, crises d'épilepsie, ataxie), dysmorphie faciale (oreilles d'implantation basse et rétrognathie), pied-bot varus équin et hypotonie musculaire. Des cataractes peuvent par ailleurs s'observer. Le pronostic est généralement défavorable. La maladie est causée par des mutations de perte de fonction du gène <i>ALG8</i> (11q14.1), qui entraînent un blocage de l'étape initiale de la glycosylation des protéines."},"de":{"name":"ALG8-CDG","synonyms":["CDG-Ih","CDG-Syndrom Typ Ih","CDG1H","Glucosyltransferase 2-Mangel","Kohlenhydrat-defizientes Glykoprotein-Syndrom Ih","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ih"],"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 Ih (CDG 1H) ist gekennzeichnet durch gastrointestinale Symptome (Durchfall, Erbrechen, Ernährungsprobleme mit Gedeihstörung, Proteinverlust-Enteropathie), Ödeme und Aszites (einschließlich Hydrops fetalis), Hepatomegalie, Nierentubulopathie, Gerinnungsanomalien aufgrund von Thrombozytopenie, Hirnbeteiligung (psychomotorische Verzögerung, Krampfanfälle, Ataxie), Gesichtsdysmorphien (tief angesetzte Ohren und Retrognathie), Pes equinovarus und muskuläre Hypotonie. Auch Katarakte können beobachtet werden. Die Prognose ist in der Regel schlecht. Die Krankheit wird durch Funktionsverlust-Mutationen im <i>ALG8</i>-Gen (11q14.1) verursacht, die zu einer Blockierung des ersten Schritts der Proteinglykosylierung führen."},"es":{"name":"ALG8-CDG","synonyms":["CDG-Ih","CDG1H","Deficiencia de glucosiltransferasa 2","Síndrome CDG tipo Ih","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ih","Trastorno congénito de la glicosilación tipo 1h","Trastorno congénito de la glicosilación tipo Ih"],"definition":"Es una forma poco frecuente de trastorno congénito de la N-glicosilación caracterizado por síntomas gastrointestinales (diarrea, vómitos y problemas en la alimentación acompañados de fallo de medro, enteropatía-perdedora de proteínas), edema y ascitis (incluyendo hidropesía fetal), hepatomegalia, tubulopatía renal, anomalías de la coagulación debidas a trombocitopenia, afectación cerebral (retraso psicomotor, convulsiones, ataxia), dismorfia facial (orejas de implantación baja, retrognatia), pie zambo e hipotonía muscular. En ciertos casos se pueden observar cataratas. Por lo habitual, el pronóstico es desfavorable. La enfermedad está causada por mutaciones de pérdida de función en el gen <i>ALG8</i> (11q14.1), que bloquean la etapa inicial de glicosilación de proteínas."},"it":{"name":"ALG8-CDG","synonyms":["CDG-Ih","CDG1H","Deficit di glucosiltransferasi 2","Disturbo congenito della glicosilazione, tipo 1h","Disturbo congenito della glicosilazione, tipo Ih","Sindrome CDG, tipo Ih","Sindrome delle glicoproteine carenti in carboidrati, tipo Ih"],"definition":"L'ALG8-CDG è una malattia congenita della N-glicosilazione, caratterizzata da sintomi gastrointestinali (diarrea, vomito, problemi di alimentazione, associati a ritardo della crescita ed enteropatia con perdita di proteine), edema e asciti, (compresa l'idrope fetale; si veda questo temine), epatomegalia, tubulopatia renale, anomalie della coagulazione secondarie alla trombocitopenia, interessamento cerebrale (ritardo psicomotorio, crisi epilettiche, atassia), dismorfismi facciali (orecchie a basso impianto e retrognazia), equinismo e ipotonia muscolare. Può essere presente la cataratta. Di solito la prognosi è sfavorevole. La malattia è causata da alcune mutazioni con perdita di funzione nel gene <i>ALG8</i> (11q14.1), che comportano un blocco nella fase iniziale della glicosilazione delle proteine."},"nl":{"name":"ALG8-CDG","synonyms":["CDG-Ih","CDG-syndroom type Ih","CDG1H","Congenitale defecten van de glycosylering type 1h","Congenitale defecten van de glycosylering type Ih","Congenitale glycosylatiestoornis type 1h","Congenitale glycosylatiestoornis type Ih","Glucosyltransferase 2-deficiëntie","Koolhydraatdeficiënt glycoproteïne-syndroom Ih"],"definition":"Een zeldzame vorm van congenitale stoornis van N-glycosylatie, gekenmerkt door gastro-intestinale symptomen (diarree, braken, voedingsproblemen met niet-gedijen, eiwitverliezende enteropathie), oedeem en ascites (waaronder hydrops foetalis), hepatomegalie, niertubulopathie, coagulatiestoornissen als gevolg van trombocytopenie, betrokkenheid van hersenen (psychomotorische achterstand, insulten, ataxie), faciale dysmorfie (laagstaande oren en retrognathie), klompvoet, en musculaire hypotonie. Cataracten kunnen ook waargenomen worden. De prognose is doorgaans ongunstig. De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>ALG8</i> (11q14.1), waardoor de initiële stap van glycosylatie van proteïnen verhinderd wordt."},"pt":{"name":"ALG8-CDG","synonyms":["CDG-Ih","CDG1H","Deficiência de glucosiltransferase 2","Doença congénita da glicosilação tipo 1h","Doença congénita da glicosilação tipo Ih","Síndrome CDG tipo Ih","Síndrome de glicoproteína deficiente em carbohidratos tipo Ih"],"definition":"Forma rara de doenças congénitas de glicosilação ligada a N, caracterizada por sintomas gastrointestinais (diarreia, vómitos, problemas de alimentação com atraso de crescimento, enteropatia perdedora de proteínas), edema e ascite (incluindo hidropisia fetal), hepatomegalia, tubulopatia renal, anomalias de coagulação devido a trombocitopenia, envolvimento cerebral (atraso psicomotor, convulsões, ataxia), dismorfismo facial (orelhas de implantação baixa e retrognatismo), pés equinovaros e hipotonia muscular. Cataratas também podem ser observadas. O prognóstico habitualmente é mau. A doença é causada por mutações de perda de função no gene ALG8 (11q14.1), resultando num bloqueio na etapa inicial da glicosilação da proteína."},"pl":{"name":"ALG8-CDG","synonyms":["CDG1H","CDG-Ih","Niedobór glukozylotransferazy 2","Wrodzone zaburzenie glikozylacji typu 1h","Wrodzone zaburzenie glikozylacji typu 1h","Zespół CDG typu Ik","Zespół obniżonej glikozylacji glikoprotein typu 1h"],"definition":"Rzadka postać wrodzonych zaburzeń N-glikozylacji charakteryzująca się objawami żołądkowo-jelitowymi (biegunka, wymioty, problemy z karmieniem połączone z brakiem przyrostu masy ciała, enteropatią z utratą białka), obrzękami i wodobrzuszem (w tym obrzękiem płodu), powiększeniem wątroby, tubulopatią nerkową, zaburzeniami krzepnięcia spowodowanymi małopłytkowością, zajęciem mózgu (opóźnienie psychoruchowe, drgawki, ataksja), dysmorfią twarzy (nisko osadzone uszy i cofnięta żuchwa), stopą końsko-szpotawą oraz hipotonią mięśniową. Może również wystąpić zaćma. Rokowanie jest zwykle niekorzystne. Choroba jest spowodowana mutacjami o typie loss-of-function w genie ALG8 (11q14.1), które powodują blok na początkowym etapie glikozylacji białek."},"cs":{"name":"ALG8-CDG","synonyms":["CDG syndrom, typ Ih","CDG-Ih","CDG1H","Syndrom s deficitem karbohydrátového glykoproteinu typ Ih","Vrozená porucha glykosylace, typ 1h","Vrozená porucha glykosylace typ, Ih","Deficit glukosyltransferázy 2"]},"uk":{"name":"ALG8-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ih","Синдром CDG тип Ih","CDG1H","CDG-Ih","Вроджене порушення глікозилювання типу 1h","Вроджене порушення глікозилювання типу Ih","Дефіцит глюкозилтрансферази 2"],"definition":"A rare form of congenital disorders of N-linked glycosylation characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene <i>ALG8</i> (11q14.1), resulting in a block in the initial step of protein glycosylation."},"zh":{"name":"先天性糖基化障碍1h型","synonyms":["碳水化合物缺乏糖蛋白综合征Ih型"]},"tr":{"name":"ALG8-CDG","synonyms":["CDG1H","CDG-Ih","CDG sendromu tip Ih","Glukosiltransferaz 2 eksikliği","Glikozilasyon tip 1h'nin doğumsal bozukluğu","Glikozilasyon tip Ih'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ih"]}},"xrefs":[{"source":"OMIM","code":"608104","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":"1039779684"},{"source":"MONDO","code":"0011969","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535746","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931002","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9834","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"orpha":371188,"name":"Congenital disorder of glycosylation with intestinal involvement","classifications":[152,156]},{"orpha":371207,"name":"Congenital disorder of glycosylation with nephropathy as a major feature","classifications":[156,188]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALG8","name":"ALG8 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":"23161","ensembl":"ENSG00000159063","omim":"608103","loci":["11q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"26066342[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26066342[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-17","source":"26066342[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","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:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003642","label":"Type I transferrin isoform profile","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001001","label":"Abnormality of subcutaneous fat tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","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:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001976","label":"Reduced antithrombin III activity","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:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}