{"orpha":839,"name":"Congenital nephrotic syndrome, Finnish type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Finnish congenital nephrosis"],"definition":"A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting <i>in utero</i> or during the first 3 months of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-839/","orphanet_url":"https://www.orpha.net/en/disease/detail/839","names":{"fr":{"name":"Syndrome néphrotique congénital type finlandais","synonyms":["Néphrose congénitale finlandaise"],"definition":"Syndrome néphrotique congénital rare, caractérisé par une protéinurie massive et des oedèmes importants, qui se manifestent in utero ou au cours des trois premiers mois postnataux."},"de":{"name":"Nephrotisches Syndrom, kongenitales, finnischer Typ","synonyms":["Nephrose, kongenitale, finnischer Typ"],"definition":"Ein seltenes kongenitales nephrotisches Syndrom, das durch massiven Eiweißverlust und ausgeprägte Ödeme gekennzeichnet ist und <i>in utero</i> oder während der ersten 3 Lebensmonate auftritt."},"es":{"name":"Síndrome nefrótico congénito tipo finlandés","synonyms":["Nefrosis congénita finlandesa"],"definition":"Es un síndrome nefrótico congénito poco frecuente caracterizado por una pérdida masiva de proteínas y marcado edema que se manifiesta <i>in utero</i> o durante los tres primeros meses de vida."},"it":{"name":"Sindrome nefrosica congenita tipo finlandese","synonyms":["Nefrosi congenita finlandese"],"definition":"Si tratta di una sindrome nefrosica congenita rara, caratterizzata dalla massiccia perdita di proteine e da edema marcato che esordiscono in utero o nei primi tre mesi di vita."},"nl":{"name":"Finse congenitale nefrose","synonyms":["Finnish congenitale nefrose"],"definition":"Een zeldzaam, congenitaal nefrotisch syndroom dat gekarakteriseerd wordt door massaal proteïneverlies en aanzienlijk oedeem en zich manifesteert <i>in utero</i> of tijdens de eerste 3 levensmaanden."},"pt":{"name":"Síndrome nefrótico congénito, tipo finlandês","synonyms":["Nefrose congénita finlandesa"],"definition":"Uma síndrome nefrótica congénita rara caracterizada por perda maciça de proteínas e edema acentuado, manifestando-se no útero ou durante os primeiros 3 meses de vida."},"pl":{"name":"Wrodzony zespół nefrotyczny typu fińskiego","synonyms":["Fińska wrodzona nefroza"]},"cs":{"name":"Vrozený nefrotický syndrom finského typu","synonyms":["Finská vrozená nefróza"]},"uk":{"name":"Вроджений нефротичний синдром, фінський тип","synonyms":["Фінський вроджений нефроз"],"definition":"A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting <i>in utero</i> or during the first 3 months of life."},"zh":{"name":"先天性肾脏综合征，Finnish型","synonyms":["Finnish先天性肾脏病"]},"tr":{"name":"Doğumsal nefrotik sendrom, Fin tipi","synonyms":["Fin Doğumsal nefrozu"]}},"xrefs":[{"source":"OMIM","code":"256300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB4Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1024559544"},{"source":"MONDO","code":"0009732","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535761","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403399","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1500","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10060740","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":564127,"name":"Genetic nephrotic syndrome","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"NPHS1","name":"NPHS1 adhesion molecule, nephrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9660941[PMID]","hgnc":"7908","ensembl":"ENSG00000161270","omim":"602716","loci":["19q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.2,"area":"Finland","status":"Validated","source":"4127143[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004639","label":"Elevated amniotic fluid alpha-fetoprotein","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null}]}}