{"orpha":656,"name":"Hereditary steroid-resistant nephrotic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial idiopathic steroid-resistant nephrotic syndrome","Genetic FSGS","Genetic SRNS","Hereditary SRNS","Isolated SRNS","Monogenic SRNS"],"definition":"A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-656/","orphanet_url":"https://www.orpha.net/en/disease/detail/656","names":{"fr":{"name":"Syndrome néphrotique corticorésistant héréditaire","synonyms":["Néphrose corticorésistante d'origine génétique","Néphrose idiopathique familiale","Syndrome néphrotique corticorésistant d'origine génétique"],"definition":"Syndrome néphrotique héréditaire rare caractérisé par une protéinurie, une hypoalbuminémie, un oedème et une hyperlipidémie, avec une absence de réponse à un traitement de première ligne par corticostéroïdes [c'est-à-dire le syndrome néphrotique résistant aux stéroïdes (SRNS)] et une évolution généralement compliquée."},"de":{"name":"Nephrotisches Syndrom, steroid-resistentes, hereditäres","synonyms":["Familiäres idiopathische steroid-resistentes Nephrotisches Syndrom","Genetisch bedingtes FSGS","Genetisch bedingtes SRNS","Hereditäres SRNS","Isoliertes SRNS","Monogenisches steroid-resistentes Nephrotisches Syndrom"],"definition":"Ein hereditäres nephrotisches Syndrom, das durch Proteinurie, Hypoalbuminämie, Ödeme und Hyperlipidämie gekennzeichnet ist und auf einen anfänglichen Versuch mit Kortikosteroiden nicht anspricht (d. h. steroidresistentes nephrotisches Syndrom; SRNS) sowie einen allgemein komplizierten Verlauf aufweist."},"es":{"name":"Síndrome nefrótico corticorresistente hereditario","synonyms":["FSGS genético","SNCR aislado","SNCR genético","SNCR hereditario","SNCR monogénico","Síndrome nefrótico corticorresistente familiar idiopático","Síndrome nefrótico hereditario resistente a esteroides"],"definition":"Es un síndrome nefrótico hereditario poco frecuente caracterizado por proteinuria, hipoalbuminemia, edema e hiperlipidemia, con ausencia de respuesta a un tanda inicial de corticoides (es decir, síndrome nefrótico resistente a esteroides; SRNS, por sus siglas en inglés) y un curso generalmente complicado."},"it":{"name":"Sindrome nefrosica ereditaria resistente agli steroidi","synonyms":["SRNS isolata","SRNS monogenica","FSGS genetica","SRNS ereditaria","SRNS genetica","Sindrome nefrosica ereditaria resistente agli steroidi","Sindrome nefrosica idiopatica familiare resistente agli steroidi"],"definition":"Si tratta di una sindrome nefrosica ereditaria rara, caratterizzata da proteinuria, ipoalbuminemia, edema e iperlipidemia, in assenza di risposta ad un trattamento di prima linea con i corticosteroidi (sindrome nefrosica resistente agli steroidi; SRNS), di solito con un decorso grave."},"nl":{"name":"Hereditair steroïdresistent nefrotisch syndroom","synonyms":["Erfelijk steroïdresistent nefrotisch syndroom","Familiaal idiopathisch steroïdresistent nefrotisch syndroom","Genetisch SRNS","Genetische FSGS","Geïsoleerd SRNS","Hereditair SRNS","Monogeen SRNS"],"definition":"Een zeldzaam, hereditair nefrotisch syndroom, gekenmerkt door proteïnurie, hypoalbuminemie, oedeem, en hyperlipidemie, met afwezigheid van een respons op een initiële toediening van corticosteroïden (i.e. steroïdresistent nefrotisch syndroom; SRNS) en doorgaans een gecompliceerd verloop."},"pt":{"name":"Síndrome nefrótica corticorresistente genética","synonyms":["SRNS genética","Síndrome nefrótica corticorresistente hereditária","Síndrome nefrótica corticorresistente idiopática familiar"]},"pl":{"name":"Dziedziczny zespół nerczycowy oporny na sterydy","synonyms":["Rodzinny idiopatyczny zespół nerczycowy","Genetycznie uwarunkowany zespół nerczycowy oporny na sterydy"]},"cs":{"name":"Geneticky podmíněný steroid-rezistentní nefrotický syndrom","synonyms":["Familiární nefrotický syndrom"]},"uk":{"name":"Генетично обумовлений стероїдорезистентний нефротичний синдром","synonyms":["Сімейний ідіопатичний стероїдорезистентний нефротичний синдром","Генетичний SRNS","Спадковий стероїдорезистентний нефротичний синдром"],"definition":"A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course."},"zh":{"name":"遗传性激素抵抗型肾病综合征","synonyms":["家族性特发性激素抵抗型肾病综合征"]},"tr":{"name":"Genetik steroide dirençli nefrotik sendrom","synonyms":["Genetik SRNS","Kalıtsal steroide dirençli nefrotik sendrom","Ailesel idiyopatik steroide dirençli nefrotik sendrom"]}},"xrefs":[{"source":"OMIM","code":"256370","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301028","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600995","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603278","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603965","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607832","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610725","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612551","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613237","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614131","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614196","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615244","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615573","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615861","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616002","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616032","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616220","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616730","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616892","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616893","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617609","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617783","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618176","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618177","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618178","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618594","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619155","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619201","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619263","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620049","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N04.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"N04.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"N04.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1385860879"},{"source":"MONDO","code":"0019006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273714","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3946","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved 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in","status":"Assessed","source":"20591883[PMID]","hgnc":"17175","ensembl":"ENSG00000138193","omim":"608414","loci":["10q23.33"]},{"symbol":"PTPRO","name":"protein tyrosine phosphatase receptor type O","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21722858[PMID]","hgnc":"9678","ensembl":"ENSG00000151490","omim":"600579","loci":["12p12.3"]},{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20150449[PMID]","hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]},{"symbol":"APOL1","name":"apolipoprotein L1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"20668430[PMID]_26901816[PMID]","hgnc":"618","ensembl":"ENSG00000100342","omim":"603743","loci":["22q12.3"]},{"symbol":"COL4A3","name":"collagen type IV alpha 3 chain","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"25407002[PMID]","hgnc":"2204","ensembl":"ENSG00000169031","omim":"120070","loci":["2q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-24","source":"28566477[PMID]_29910038[PMID]_32155690[PMID]","terms":[{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001967","label":"Diffuse mesangial sclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031504","label":"Foamy urine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012579","label":"Minimal change glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Very rare (<4-1%)","criteria":null}]}}