{"orpha":93571,"name":"Dense deposit disease","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Membranoproliferative glomerulonephritis type 2"],"definition":"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93571/","orphanet_url":"https://www.orpha.net/en/disease/detail/93571","names":{"fr":{"name":"Maladie de dépôt dense","synonyms":["Glomérulonéphrite membranoproliférative type 2"],"definition":"Sous-type histologique de glomérulopathie à dépôts de C3 caractérisé par la présence de dépôts de C3 dans le tissu rénal en l'absence ou quasi-absence de dépôts d'immunoglobulines, chez un patient présentant les signes cliniques typiques d'une glomérulonéphrite avec dépôts intra-membraneux osmiophiles hautement denses aux électrons, mis en évidence par microscopie électronique."},"de":{"name":"Glomerulonephritis, membranoproliferative, Typ 2","synonyms":["Dense-deposit-Krankheit"],"definition":"Ein histologischer Subtyp der C3-Glomerulopathie, der durch C3-Ablagerungen im Nierengewebe bei Fehlen oder weitgehender Abwesenheit von Immunglobulin-Ablagerungen gekennzeichnet ist, bei einem Patienten mit den klassischen klinischen Zeichen einer Glomerulonephritis und elektronenmikroskopischen Befunden hochdichter intramembranöser osmiophiler Ablagerungen."},"es":{"name":"Enfermedad de depósitos densos","synonyms":["Glomerulonefritis membranoproliferativa tipo 2"],"definition":"Es un subtipo histológico de glomerulopatía C3 caracterizado por la deposición de C3 en el tejido renal en ausencia total o parcial de depósitos de inmunoglobulinas, en un paciente con características clínicas clásicas de glomerulonefritis y hallazgos de depósitos intramembranosos y osmiofílicos altamente densos por microscopía electrónica."},"it":{"name":"Malattia dei depositi densi","synonyms":["Malattia da depositi densi"],"definition":"Si tratta di un sottotipo istologico di glomerulopatia da C3, caratterizzato dall'accumulo di C3 nei tessuti renali, in assenza (o quasi assenza) di depositi di immunoglobuline, in un paziente che presenta i segni clinici caratteristici della glomerulonefrite. L'analisi al microscopio elettronico evidenzia depositi osmiofili intramembranosi altamente elettrondensi."},"nl":{"name":"Dense deposit-ziekte","synonyms":["DDD","Dense deposit disease","Membranoproliferatieve glomerulonefritis type 2"],"definition":"Een histologisch subtype van C3-glomerulopathie, gekenmerkt door depositie van C3 in nierweefsel in afwezigheid of bijna afwezigheid van afzettingen van immunoglobulinen, bij een patiënt met de klassieke klinische kenmerken van glomerulonefritis en bevindingen van elektronenmicroscopie van zeer elektronendense intramembraneuze, osmiofiele afzettingen."},"pt":{"name":"Doença de depósitos densos","synonyms":["Glomerulonefrite membranoproliferativa tipo 2"],"definition":"Subtipo histológico de glomerulopatia C3 caracterizada pela deposição de C3 no tecido renal na ausência ou quase ausência de depósitos de imunoglobulina, em doentes com as características clínicas clássicas de glomerulonefrite e achados ao microscópico eletrónico de depósitos osmiofílicos altamente eletrodensos intra-membranosos."},"pl":{"name":"Choroba gęstych złogów","synonyms":["Błoniasto-rozplemowe zapalenie kłębuszków nerkowych typu 2"]},"cs":{"name":"Nemoc denzních depozit","synonyms":["Membranoproliferativní glomerulonefritida, typ 2"]},"uk":{"name":"Хвороба щільних відкладень","synonyms":["Мембранопроліферативний гломерулонефрит 2 типу"],"definition":"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits."},"zh":{"name":"致密物沉积病","synonyms":["膜性增生性肾小球肾炎2型"],"definition":"致密沉积病，MPGN的一种组织学亚型（见该词条），是一种特发性慢性进行性肾脏疾病，其特征是除了肾小球毛细血管壁中存在免疫复合物内皮下沉积外，还存在膜内致密沉积物。这种病通常在肾移植后有较高的复发率，并与肾外表现有关，如家族性玻璃疣（见该词条）。"},"tr":{"name":"Yoğun depozit hastalığı","synonyms":["Membranoproliferatif glomerülonefrit tip 2"]}},"xrefs":[{"source":"OMIM","code":"609814","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614809","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N03.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"GB40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"539264478"},{"source":"MONDO","code":"0019736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8555","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":329918,"name":"C3 glomerulopathy","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"CFH","name":"complement factor H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22388616[PMID]_20301598[PMID]","hgnc":"4883","ensembl":"ENSG00000000971","omim":"134370","loci":["1q31.3"]},{"symbol":"CFHR1","name":"complement factor H related 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23728178[PMID]","hgnc":"4888","ensembl":"ENSG00000244414","omim":"134371","loci":["1q31.3"]},{"symbol":"CFHR5","name":"complement factor H related 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21566112[PMID]","hgnc":"24668","ensembl":"ENSG00000134389","omim":"608593","loci":["1q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Worldwide","status":"Validated","source":"20301598[PMID]"}],"phenotypes":null}