{"orpha":83639,"name":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital disorder of glycosylation due to PIGM deficiency","PIGM-CDG"],"definition":"A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83639/","orphanet_url":"https://www.orpha.net/en/disease/detail/83639","names":{"fr":{"name":"Syndrome d'hypercoagulabilité par déficit héréditaire en glycosyl phosphatidyl inositol","synonyms":["Anomalie congénitale de la glycosylation par déficit en PIGM","PIGM-CDG"],"definition":"Anomalie congénitale de la glycosylation rare caractérisée par une thrombose veineuse cérébrale et portale, une hypertension portale, une macrocéphalie et des crises d'absence persistantes. Les autres signes rapportés sont un retard de développement global léger à modéré et une déficience intellectuelle, ainsi qu'une thrombocytopénie. L'imagerie cérébrale peut mettre en évidence des stades variables d'infarctus et d'atrophie cérébrale et cérébelleuse."},"de":{"name":"Hyperkoagulabilitätssyndrom durch Glykosylphosphatidyl-Inositol-Mangel","synonyms":["Glykosylierungs-Krankheit, kongenitale, durch PIGM-Mangel","Kohlenhydrat-defizientes Glykoprotein-Syndrom durch PIGM-Mangel","Kongenitaler Defekt der Glycoproteinbiosynthese durch PIGM-Mangel","PIGM-CDG"],"definition":"Eine seltene kongenitale Glykosylierungsstörung mit zerebraler und Pfortaderthrombose, portaler Hypertension, Makrozephalie und persistierenden Absence-Anfällen. Darüber hinaus werden eine leichte bis mäßige globale Entwicklungsverzögerung und Intelligenzminderung sowie eine Thrombozytopenie berichtet. Die zerebrale Bildgebung kann verschiedene Stadien des Infarkts und der zerebralen und zerebellären Atrophie zeigen."},"es":{"name":"Síndrome de hipercoagulabilidad por deficiencia de glicosilfosfatidilinositol","synonyms":["PIGM-CDG","Trastorno congénito de la glicosilación por deficiencia de PIGM"],"definition":"Es un trastorno congénito de la glucosilación poco frecuente caracterizado por trombosis de las venas porta y cerebral, hipertensión portal, macrocefalia y crisis de ausencia persistentes. Otras características adicionales descritas incluyen retraso del desarrollo global de leve a moderado y discapacidad intelectual, así como trombocitopenia. La neuroimagen puede mostrar infartos y atrofia cerebral y cerebelosa en diferentes estadios."},"it":{"name":"Sindrome da ipercoagulabilità da deficit glicosilfosfatidilinositolo","synonyms":["PIGM-CDG"],"definition":"Si tratta di una malattia congenita rara della glicosilazione, caratterizzata dalla trombosi cerebrale e della vena porta, ipertensione portale, macrocefalia e crisi di assenza persistenti. I pazienti possono presentare anche ritardo dello sviluppo globale lieve-moderato, disabilità intellettiva e trombocitopenia. Le neuroimmagini mostrano un infarto ed una atrofia cerebrale e cerebellare di grado variabile."},"nl":{"name":"Hypercoagulabiliteit-syndroom door deficiëntie van glycosylfosfatidylinositol","synonyms":["Congenitale glycosylatiestoornis door PIGM-deficiëntie","PIGM-CDG"],"definition":"Een zeldzame congenitale glycosylatiestoornis, gekarakteriseerd door trombose van vena cerebri en vena portae, portale hypertensie, macrocefalie, en persisterende absence-epilepsie. Gerapporteerde bijkomende kenmerken zijn onder meer milde tot matige algehele ontwikkelingsachterstand en intellectuele achterstand, alsook trombocytopenie. Beeldvorming van hersenen toont mogelijk variabele stadia van infarct, en cerebrale en cerebellaire atrofie."},"pt":{"name":"Síndrome hipercoagulabilidade por deficiência de glicosilfosfatidilinositol"},"pl":{"name":"Zespół nadkrzepliwości spowodowany niedoborem glikozylofosfatydyloinozytolu","synonyms":["PIGM-CDG"]},"cs":{"name":"Hyperkoagulační syndrom způsobený deficitem glykosylfosfatidylinositolu","synonyms":["PIGM-CDG"]},"uk":{"name":"Синдром гіперкоагуляції внаслідок дефіциту глікозилфосфатидилінозитолу","synonyms":["Вроджене порушення глікозилювання внаслідок дефіциту PIGM","PIGM-CDG"],"definition":"A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy."},"zh":{"name":"糖基磷脂酰肌醇缺乏所致高凝综合征","synonyms":["PIGM缺乏所致先天性糖基化障碍"]},"tr":{"name":"Glikozilfosfatidilinositol eksikliğine bağlı hiper pıhtılaşma sendromu","synonyms":["PİGM-CDG","PİGM eksikliğine bağlı Doğumsal glikozilasyon bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"610293","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B61.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1811042875"},{"source":"MONDO","code":"0012465","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510605","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9965","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","classifications":[150,156]},{"orpha":248361,"name":"Rare thrombotic disorder due to a constitutional coagulation factors defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"PIGM","name":"phosphatidylinositol glycan anchor biosynthesis class M","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16767100[PMID]","hgnc":"18858","ensembl":"ENSG00000143315","omim":"610273","loci":["1q23.2"]},{"symbol":"PIGW","name":"phosphatidylinositol glycan anchor biosynthesis class W","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27626616[PMID]","hgnc":"23213","ensembl":"ENSG00000277161","omim":"610275","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"16767100[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16767100[PMID]"}],"phenotypes":null}