{"orpha":69063,"name":"Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alloimmune neonatal renal disease","FMAIG","Fetomaternal alloimmunization with antenatal glomerulopathies","Neonatal glomerulopathy due to neprilysin alloimmunization","Neonatal membranous glomerulopathy with maternal NEP deficiency","Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency"],"definition":"A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69063/","orphanet_url":"https://www.orpha.net/en/disease/detail/69063","names":{"fr":{"name":"Glomérulopathie extra-membraneuse congénitale par allo-immunisation foetomaternelle anti-endopeptidase neutre","synonyms":["FMAIG","GEM allo-immune","Glomérulonéphrite extra-membraneuse néonatale par allo-immunisation foetomaternelle"],"definition":"Maladie glomérulaire congénitale rare due à une allo-immunisation foeto-maternelle anti-endopeptidase neutre (NEP), caractérisée par une insuffisance rénale sévère et un syndrome néphrotique à la naissance qui s'améliorent rapidement au cours des premières semaines de vie."},"de":{"name":"Kongenitale membranöse Nephropathie durch Alloimmunisierung gegen fetomaternale anti-neutrale Endopeptidase","synonyms":["FMAIG","Fetomaternale Alloimmunisierung mit antenatalen Glomerulopathien","Neonatale Glomerulopathie durch Neprilysin-Alloimmunisierung","Neonatale alloimmune Nierenkrankheit","Neonatale membranöse Glomerulonephritis mit maternalem NEP-Mangel","Neonatale membranöse Glomerulopathie mit maternalem neutraler Endopeptidase-Mangel"],"definition":"Eine seltene angeborene Glomerulopathie, die auf eine mütterliche Anti-Neutrale Endopeptidase (NEP)-Alloimmunisierung zurückzuführen ist. Sie ist gekennzeichnet durch schweres Nierenversagen und ein nephrotisches Syndrom bei der Geburt, das sich in den ersten Lebenswochen rasch bessert."},"es":{"name":"Nefropatía membranosa congénita por aloinmunización fetomaterna por anticuerpos anti-endopeptidasa neutra","synonyms":["Aloinmunización fetomaterna con glomerulopatías prenatales","Enfermedad renal neonatal aloinmune","FMAIG","Glomerulopatía membranosa neonatal con deficiencia materna de EPN","Glomerulopatía membranosa neonatal con deficiencia materna de endopeptidasa neutra","Glomerulopatía neonatal por aloinmunización por neprilisina"],"definition":"Es una enfermedad glomerular congénita minoritaria debida a aloinmunización materna por anticuerpos anti-endopeptidasa neutra (NEP) caracterizada por insuficiencia renal grave y síndrome nefrótico al nacer que mejora rápidamente en las primeras semanas de vida."},"it":{"name":"Nefropatia membranosa congenita da alloimmunizzazione materna anti-endopeptidasi neutra","synonyms":["Alloimmunizzazione fetomaterna con glomerulopatie prenatali","FMAIG","Glomerulopatia membranosa neonatale con deficit materno di NEP","Glomerulopatia membranosa neonatale con deficit materno di endopeptidasi neutra","Malattia renale neonatale alloimmune"],"definition":"Si tratta di una glomerulopatia congenita rara, causata dall'allomunizzazione materna anti-endopeptidasi neutra (NEP). È caratterizzata da insufficienza renale grave e da una sindrome nefrosica congenita, che migliorano rapidamente nelle prime settimane di vita."},"nl":{"name":"Congenitale membraneuze nefropathie door foetomaternale anti-neutrale endopeptidase-allo-immunisatie","synonyms":["Allo-immune neonatale nierziekte","FMAIG","Foetomaternale allo-immunisatie met prenatale glomerulopathieën","Neonatale glomerulopathie door neprilysine-allo-immunisatie","Neonatale membraneuze glomerulopathie met maternale NEP-deficiëntie","Neonatale membraneuze glomerulopathie met maternale neutrale endopeptidasedeficiëntie"],"definition":"Een zeldzame, congenitale glomerulaire ziekte als gevolg van maternale alloimmunisatie tegen neutraal endopeptidase (NEP), gekarakteriseerd door ernstig nierfalen en nefrotisch syndroom bij de geboorte, die snel verbeteren in de eerste weken na de geboorte."},"pt":{"name":"Glomerulonefrite membranosa congénita por aloimunização anti-endopeptidase neutra materna"},"pl":{"name":"Wrodzona nefropatia błoniasta związana z matczyną alloimmunizacją przeciwko neutralnej endopeptydazie","synonyms":["Alloimmunizacja matczyno-płodowa z glomerulopatią prenatalną","Alloimmunizacyjna choroba nerek noworodków","FMAIG","Noworodkowa błonaista glomerulopatia z deficytem matczynego NEP","Noworodkowa glomerulopatia błoniasta z deficytem matczynej endopeptydazy"]},"cs":{"name":"Vrozená membranózní nefropatie způsobená aloimunizací maternální anti-neutrální endopeptidázou","synonyms":["FMAIG","Fetomaternální aloimunizace s antenatálními glomerulopatiemi","Neonatální membranózní glomerulopatie s maternálním deficitem NEP","Neonatální membranózní glomerulopatie s deficitem maternální neutrální endopeptidázy","Aloimunitní neonatální renální onemocnění"]},"uk":{"name":"Вроджена мембранозна нефропатія внаслідок фето-материнської алоімунізації антинейтральною ендопептидазою","synonyms":["Алоімунна неонатальна хвороба нирок","Алоімунізація плода та матері при антенатальних гломерулопатіях","FMAIG","Неонатальна гломерулопатія внаслідок алоімунізації неприлізином","Неонатальна мембранозна гломерулопатія з дефіцитом NEP у матері","Неонатальна мембранозна гломерулопатія з дефіцитом нейтральної ендопептидази у матері"],"definition":"A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life."},"zh":{"name":"母体抗中性肽链内切酶同种免疫所致先天性膜性肾病","synonyms":["同种免疫性新生儿肾脏疾病"]},"tr":{"name":"Fetomaternal anti-nötr endopeptidaz alloimmünizasyonuna bağlı doğumsal membranöz nefropati","synonyms":["Neprilisin alloimmünizasyonuna bağlı yenidoğan glomerülopati","Antenatal glomerülopatilerde fetomaternal alloimmünizasyon","Maternal NEP eksikliği olan yenidoğan membranöz glomerülopati","Maternal nötr endopeptidaz eksikliği olan yenidoğan membranöz glomerülopati","FMAIG","Alloimmün yenidoğan böbrek hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"P96.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1180368331"},{"source":"MONDO","code":"0019068","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511239","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":97668,"name":"OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"MME","name":"membrane metalloendopeptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15464186[PMID]","hgnc":"7154","ensembl":"ENSG00000196549","omim":"120520","loci":["3q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"19154696[PMID]_15464186[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-22","source":"16609292[PMID]","terms":[{"hpo":"HP:0030949","label":"Glomerular deposits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031437","label":"Pregnancy exposure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null}]}}