{"orpha":443988,"name":"Ventriculomegaly-cystic kidney disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital nephrosis-cerebral ventriculomegaly syndrome","VMCKD"],"definition":"A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443988/","orphanet_url":"https://www.orpha.net/en/disease/detail/443988","names":{"fr":{"name":"Syndrome de ventriculomégalie-maladie des kystes rénaux","synonyms":["Syndrome de néphrose congénitale-ventriculomégalie cérébrale","VMCKD"],"definition":"Syndrome génétique rare avec malformation du système nerveux central comme manifestation majeure, caractérisé par une triade, à savoir, des taux élevés d'alpha-foetoprotéine dans le sérum maternel et le liquide amniotique, une ventriculomégalie cérébrale et des macro- et microkystes rénaux. Parmi les manifestations variables figurent, entre autres, le syndrome néphrotique congénital, la sténose de l'aqueduc, les hétérotopies de la substance grise et les malformations cardiaques."},"de":{"name":"Ventrikulomegalie mit zystischer Nierenkrankheit","synonyms":["Kongenitale Nephrose mit zerebraler Ventrikulomegalie","VMCKD"],"definition":"Ein genetisch bedingtes Fehlbildungssyndrom des zentralen Nervensystems, das gekennzeichnet ist durch eine Trias aus hohen Alpha-Fetoprotein-Werten im mütterlichen Serum und im Fruchtwasser, zerebraler Ventrikulomegalie und renalen Makro- und Mikrozysten. Zu den variablen Befunden gehören u. a. das kongenitale nephrotische Syndrom, Aquäduktstenose, Heterotopien der grauen Substanz und kardiale Fehlbildungen."},"es":{"name":"Ventriculomegalia con enfermedad quística renal","synonyms":["Nefrosis congénita con ventriculomegalia cerebral","VMCKD"],"definition":"Es un síndrome genético poco frecuente con una malformación del sistema nervioso central como característica principal que se caracteriza por la tríada de niveles elevados de alfa-fetoproteína tanto en el suero materno como en el líquido amniótico, ventriculomegalia cerebral y macro- y microquistes renales. Otros hallazgos variables incluyen síndrome nefrótico congénito, estenosis acueductal, heterotopías de sustancia gris y malformaciones cardíacas, entre otros."},"it":{"name":"Ventricolomegalia-malattia cistica renale","synonyms":["Nefrosi congenita con ventricolomegalia cerebrale","VMCKD"],"definition":"Si tratta di una malattia genetica rara la cui caratteristica principale è una malformazione del sistema nervoso centrale. È caratterizzata dalla triade livelli elevati di alfa-fetoproteina nel siero materno e nel liquido amniotico, ventricolomegalia cerebrale e macro/microcisti renali. Altri segni clinici variabili sono la sindrome nefrosica congenita, la stenosi acqueduttale, l'eterotopia della sostanza grigia e le cardiopatie."},"nl":{"name":"Ventriculomegalie - cystische nierziekte","synonyms":["Congenitale nefrose met cerebrale ventriculomegalie","VMCKD"],"definition":"Een zeldzaam, genetisch syndroom met een malformatie van centraal zenuwstelsel als een hoofdkenmerk, gekarakteriseerd door een triade van hoge gehaltes van alfafoetoproteïne in zowel maternaal serum als vruchtwater, cerebrale ventriculomegalie, en renale macro- en microcysten. Variabele bevindingen zijn onder meer congenitaal nefrotisch syndroom, aqueductale stenose, heterotopie van grijze stof, en hartmalformaties."},"pt":{"name":"Ventriculomegália com doença renal quística"},"pl":{"name":"Wentrikulomegalia z torbielowatą chorobą nerek","synonyms":["VMCKD","Wrodzona nefroza z wentrikulomegalią mózgową"]},"cs":{"name":"Ventrikulomegalie a cystická choroba ledvin","synonyms":["Syndrom zahrnující vrozenou nefrózu a cerebrální ventrikulomegalii","VMCKD"]},"uk":{"name":"Вентрикуломегалія - кістозна хвороба нирок","synonyms":["Синдром вродженого нефрозу-церебральної вентрикуломегалії","VMCKD"],"definition":"A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others."},"zh":{"name":"脑室扩大-囊性肾脏疾病","synonyms":["先天性肾病-脑室扩大综合征"],"definition":"一种罕见的遗传综合症，以中枢神经系统畸形为主要特征，其特征是母亲血清和羊水中的甲胎蛋白水平高，脑室大，肾脏中大囊肿和微囊肿。其他各种临床表现包括先天性肾病综合征，输尿管狭窄，灰质异位症和心脏畸形。"},"tr":{"name":"Ventrikülomegali-kistik böbrek hastalığı","synonyms":["VMCKD","Doğumsal nefroz-serebral ventrikülomegali sendromu"]}},"xrefs":[{"source":"OMIM","code":"219730","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009063","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565657","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857423","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"CRB2","name":"crumbs cell polarity complex component 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25557780[PMID]","hgnc":"18688","ensembl":"ENSG00000148204","omim":"609720","loci":["9q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"25557780[PMID]_2478019[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25557780[PMID]_2478019[PMID]"}],"phenotypes":null}