{"orpha":1493,"name":"Vici syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Corpus callosum agenesis-cataract-immunodeficiency syndrome","Dionisi-Vici-Sabetta-Gambarara syndrome"],"definition":"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1493/","orphanet_url":"https://www.orpha.net/en/disease/detail/1493","names":{"fr":{"name":"Syndrome de Vici","synonyms":["Syndrome d'immunodéficience-cataracte-agénésie du corps calleux","Syndrome de Vici-Sabetta-Gambarara"],"definition":"Maladie congénitale multisystémique rare et sévère qui se caractérise principalement par une agénésie du corps calleux, des cataractes, une hypopigmentation oculocutanée, une cardiomyopathie et un déficit immunitaire combiné."},"de":{"name":"Vici-Syndrom","synonyms":["Corpus callosum-Agenesie-Katarakt-Immunfdefekt-Syndrom","Dionisis-Vici-Sabetta-Gambarara-Syndrom"]},"es":{"name":"Síndrome de Vici","synonyms":["Síndrome de Dionisi-Vici-Sabetta-Gambarara","Síndrome de agenesia de cuerpo calloso-catarata-inmunodeficiencia"],"definition":"El síndrome de Vici es un trastorno multisistémico congénito grave muy infrecuente caracterizado por los principales hallazgos de agenesia del cuerpo calloso, cataratas, hipopigmentación oculocutánea, miocardiopatía e inmunodeficiencia combinada."},"it":{"name":"Sindrome di Vici","synonyms":["Sindrome di Dionisi Vici-Sabetta-Gambarara"]},"nl":{"name":"Syndroom van Vici","synonyms":["Agenesie van corpus callosum - cataract - immuundeficiëntie-syndroom","Syndroom van Dionisi-Vici-Sabetta-Gambarara"],"definition":"Vicisyndroom is een zeer zeldzame en ernstige, aangeboren multisysteemstoornis, gekarakteriseerd door de belangrijkste kenmerken van agenesie van het corpus callosum, staar, oculocutane hypopigmentatie, cardiomyopathie en gecombineerde immunodeficiëntie."},"pt":{"name":"Síndrome Vici","synonyms":["Síndrome Dionisi-Vici-Sabetta-Gambarara","Síndrome de agenesia do corpo caloso-catarata-imunodeficiência"]},"pl":{"name":"Zespół Viciego","synonyms":["Zespół Dionisi, Viciego, Sabetta i Gambarara"]},"cs":{"name":"Viciho syndrom","synonyms":["Dionisi Viciho-Sabettaův-Gambararové syndrom","Dionisi-Vici-Sabetta-Gambararové syndrom"]},"uk":{"name":"Синдром Вічі","synonyms":["Синдром агенезії мозолистого тіла - катаракта-імунодефіцит","Синдром Діонізі-Вікі-Сабетта-Гамбарара"],"definition":"Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency."},"zh":{"name":"Vici综合征","synonyms":["胼胝体发育不全-白内障-免疫缺陷综合征"]},"tr":{"name":"Vici sendromu","synonyms":["Dionisi-Vici-Sabetta-Gambarara sendromu","Korpus kallozum agenezisi-katarakt-immün yetmezlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"242840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"908973419"},{"source":"MONDO","code":"0009452","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535566","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855772","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"448","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"EPG5","name":"ectopic P-granules 5 autophagy tethering factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23222957[PMID]","hgnc":"29331","ensembl":"ENSG00000152223","omim":"615068","loci":["18q12.3-q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"26917586[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26917586[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","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:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005999","label":"Ureteral atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008348","label":"Decreased circulating IgG2 level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}