{"orpha":79319,"name":"MPI-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ib","CDG-Ib","CDG1B","Carbohydrate deficient glycoprotein syndrome type Ib","Congenital disorder of glycosylation type 1b","Congenital disorder of glycosylation type Ib","Phosphomannose isomerase deficiency"],"definition":"MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombin III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene <i>MPI</i> (15q24.1).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79319/","orphanet_url":"https://www.orpha.net/en/disease/detail/79319","names":{"fr":{"name":"MPI-CDG","synonyms":["Déficit en phosphomannose isomerase","Syndrome CDG type Ib","Syndrome des glycoprotéines déficientes en hydrates de carbone type Ib","Anomalie congénitale de la glycosylation type 1b","Anomalie congénitale de la glycosylation type Ib","CDG-Ib","CDG1B"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par des vomissements cycliques, une hypoglycémie profonde, un retard de croissance staturo-pondérale, une fibrose hépatique, des complications gastro-intestinales (entéropathie avec perte de protéines et hypoalbuminémie, hémorragie intestinale d'origine diffuse mettant en jeu le pronostic vital) et des événements thrombotiques (déficit en protéines&nbsp;C et S, faible taux d'antithrombine&nbsp;III), alors que le développement neurologique et les capacités cognitives sont généralement normaux. L'évolution clinique est variable, même au sein d'une même famille. La maladie est due à une perte de fonction du gène&nbsp;<i>MPI</i> (15q24.1)."},"de":{"name":"MPI-CDG","synonyms":["CDG-Ib","CDG-Syndrom Typ Ib","CDG1B","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ib","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ib","Phosphomannose-Isomerase-Mangel"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe angeborener Stoffwechselstörungen mit gestörter Synthese von Glykoproteinen. Das CDG-Syndrom Typ Ib (CDG 1B) ist gekennzeichnet durch zyklisches Erbrechen, schwere Hypoglykämie, Gedeihstörungen, Leberfibrose, gastrointestinale Komplikationen (Proteinverlust-Enteropathie mit Hypalbuminämie, lebensbedrohliche Darmblutungen diffuser Genese) und thrombotische Ereignisse (Protein-C- und -S-Mangel, niedrige Antithrombin-III-Spiegel), während die neurologische Entwicklung und die kognitiven Fähigkeiten in der Regel normal sind. Der klinische Verlauf ist selbst innerhalb von Familien variabel. Ursache des CDG 1B sind inaktivierende Mutationen im <i>MPI</i>-Gen, das in der Chromosomenregion 15q22-qter liegt und die zytoplasmatische Phosphomannose-Isomerase kodiert."},"es":{"name":"MPI-CDG","synonyms":["CDG-Ib","CDG1B","Deficiencia de fosfomanosa isomerasa","Síndrome CDG tipo Ib","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ib","Trastorno congénito de la glicosilación tipo 1b","Trastorno congénito de la glicosilación tipo Ib"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por vómitos cíclicos, grave hipoglucemia, fallo de medro, fibrosis hepática, complicaciones gastrointestinales (enteropatía perdedora de proteínas con hipoalbuminemia, hemorragia intestinal de origen desconocido y potencialmente letal) y eventos trombóticos (deficiencia de proteína C y S, niveles bajos de antitrombina III), mientras que el desarrollo neurológico y la función cognitiva suelen ser normales. El curso clínico de la enfermedad suele ser variable, incluso dentro de una misma familia. La enfermedad está causada por la pérdida de función en el gen <i>MPI</i> (15q24.1)."},"it":{"name":"MPI-CDG","synonyms":["CDG-Ib","CDG1B","Deficit di fosfomannosio isomerasi","Disturbo congenito della glicosilazione, tipo 1b","Disturbo congenito della glicosilazione, tipo Ib","Sindrome CDG, tipo Ib","Sindrome delle glicoproteine carenti in carboidrati, tipo Ib"],"definition":"La MPI-CDG è una malattia congenita della N-glicosilazione, caratterizzata da vomito ciclico, ipoglicemia grave, ritardo della crescita, fibrosi epatica, complicanze gastrointestinali (enteropatia proteino-disperdente con ipoalbuminemia, emorragie intestinali massicce potenzialmente letali) e trombosi (deficit di proteina C e S, bassi livelli di antitrombina III). Di solito, lo sviluppo neurologico e le capacità cognitive sono normali. Il decorso clinico è variabile, anche all'interno della stessa famiglia. La malattia è causata dalla perdita di funzione nel gene MPI (15q24.1)."},"nl":{"name":"MPI-CDG","synonyms":["CDG-Ib","CDG-syndroom type Ib","CDG1B","Congenitale defecten van de glycosylering type 1b","Congenitale defecten van de glycosylering type Ib","Congenitale glycosylatiestoornis type 1b","Congenitale glycosylatiestoornis type Ib","Fosfomannose-isomerasedeficiëntie","Koolhydraatdeficiënt glycoproteïne-syndroom type Ib"],"definition":"MPI-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door cyclisch braken, ernstige hypoglycemie, groeiachterstand, leverfibrose, gastro-intestinale complicaties (eiwitverliezende enteropathie met hypoalbuminemie, levensbedreigende intestinale bloeding met diffuse oorsprong), en trombotische voorvallen (deficiëntie van proteïne C en S, lage anti-trombine III-gehaltes), terwijl de neurologische ontwikkeling en cognitieve capaciteit doorgaans normaal zijn. Het klinisch verloop is variabel, zelfs binnen families. De ziekte wordt veroorzaakt door functieverlies van het gen <i>MPI</i> (15q24.1)."},"pt":{"name":"MPI-CDG","synonyms":["CDG-Ib","CDG1B","Deficiência de fosfomanose isomerase","Doença congénita da glicosilação tipo 1b","Doença congénita da glicosilação tipo Ib","Síndrome CDG tipo Ib","Síndrome de glicoproteína deficiente em carbohidratos tipo Ib"]},"pl":{"name":"MPI-CDG","synonyms":["CDG1B","CDG-Ib","Niedobór izomerazy fosfomannozy","Wrodzone zaburzenie glikozylacji typu 1b","Wrodzone zaburzenie glikozylacji typu Ib","Zespół CDG typu Ib","Zespół obniżonej glikozylacji glikoprotein typu Ib"]},"cs":{"name":"MPI-CDG","synonyms":["CDG syndrom, typ Ib","CDG-Ib","CDG1B","Carbohydrate deficient glycoprotein syndrom type Ib","Vrozená porucha glykosylace, typ 1b","Vrozená porucha glykosylace, typ Ib","Deficit fosfomannózaizomerázy","Syndrom s deficitem karbohydrátového glykoproteinu typ Ib"]},"uk":{"name":"MPI-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ib","Синдром CDG, тип Ib","CDG1B","CDG-Ib","Вроджене порушення глікозилювання типу 1b","Вроджене порушення глікозилювання типу Ib","Дефіцит фосфоманнозо-ізомерази"],"definition":"MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene <i>MPI</i> (15q24.1)."},"zh":{"name":"先天性糖基化障碍1b型","synonyms":["碳水化合物缺乏糖蛋白综合征Ib型"]},"tr":{"name":"MPI-CDG","synonyms":["CDG1B","CDG-Ib","CDG sendromu tip Ib","Fosfomannoz izomeraz eksikliği","Tip 1b'nin doğumsal bozukluğu","Tip Ib'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ib"]}},"xrefs":[{"source":"OMIM","code":"602579","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":"803079134"},{"source":"MONDO","code":"0011257","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535740","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865145","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9830","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":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":"MPI","name":"mannose phosphate isomerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"7216","ensembl":"ENSG00000178802","omim":"154550","loci":["15q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"19862844[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19862844[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-10","source":"20301507[PMID]_32266963[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040246","label":"Reduced antithrombin antigen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001929","label":"Reduced factor XI activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005543","label":"Reduced protein C activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004855","label":"Reduced protein S activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}