{"orpha":2613,"name":"Nail-patella-like renal disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Salcedo syndrome"],"definition":"A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2613/","orphanet_url":"https://www.orpha.net/en/disease/detail/2613","names":{"fr":{"name":"Maladie rénale nail-patella-like","synonyms":["Syndrome de Salcedo"],"definition":"Néphropathie glomérulaire rare d'origine génétique caractérisée par une néphropathie de sévérité variable et par une hématurie microscopique et une protéinurie, en l'absence d'anomalies des ongles et des os. L'examen ultrastructural met typiquement en évidence un épaississement irrégulier conférant à la membrane basale glomérulaire un aspect mité et un dépôt focal de fibrilles de collagène de type III."},"de":{"name":"Nagel-Patella-Syndrom-ähnliche Nierenerkrankung","synonyms":["Salcedo-Syndrom"],"definition":"Eine seltene genetisch bedingte glomeruläre Erkrankung, die durch eine Nephropathie unterschiedlichen Schweregrades mit mikroskopischer Hämaturie und Proteinurie ohne Nagel- und Knochenanomalien gekennzeichnet ist. Charakteristische ultrastrukturelle Befunde sind eine unregelmäßige Verdickung und ein mottenzerfressenes Aussehen der glomerulären Basalmembran mit fokalen Ablagerungen von Typ-III-Kollagenfibrillen."},"es":{"name":"Enfermedad renal similar al síndrome uña-rótula","synonyms":["Enfermedad renal síndrome uña-rótula-like","Síndrome de Salcedo"],"definition":"Es una enfermedad glomerular de base genética poco frecuente caracterizada por una nefropatía de gravedad variable con hematuria microscópica y proteinuria, en ausencia de anomalías ungueales y óseas. Los hallazgos ultraestructurales característicos son engrosamiento irregular y aspecto ''apolillado'' de la membrana basal glomerular con acúmulos focales de fibrillas de colágeno tipo III."},"it":{"name":"Malattia renale nail-patella-simile","synonyms":["Sindrome di Salcedo"],"definition":"Si tratta di una glomerulopatia genetica rara, caratterizzata da nefropatia di gravità variabile con ematuria microscopica e proteinuria, in assenza di anomalie delle unghie e dello scheletro. L'analisi ultrastrutturale mostra un ispessimento irregolare e un caratteristico aspetto ''tarlato'' della membrana basale glomerulare con depositi focali di fibrille di collagene tipo III."},"nl":{"name":"Nagel-patella-achtige nierziekte","synonyms":["Syndroom van Salcedo"],"definition":"Een zeldzame, genetische glomerulaire aandoening, gekarakteriseerd door variabel ernstige nefropathie met microscopische hematurie en proteïnurie, in afwezigheid van nagel- en botanomalieën. Typische ultrastructurele bevindingen zijn onregelmatige verdikking en 'moth-eaten' uiterlijk van glomerulaire basale membraan met focale depositie van type III collageenvezels."},"pt":{"name":"Doença renal unha-rótula-like","synonyms":["Síndrome Salcedo"]},"pl":{"name":"Choroba nerek podobna do zespołu paznokieć-rzepka","synonyms":["Zespół Salcedo"]},"cs":{"name":"Renální nemoc podobná syndromu nehet-patela","synonyms":["Renální nemoc podobná hereditární osteoonychodysplázii","HOOD syndrom","Salcedoův syndrome"]},"uk":{"name":"Нігті-надколінник-подібна хвороба нирок","synonyms":["Синдром Сальседо"],"definition":"A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils."},"zh":{"name":"指甲-髌骨样肾脏病","synonyms":["Salcedo综合征"]},"tr":{"name":"Tırnak-patella benzeri böbrek hastalığı","synonyms":["Salcedo sendromu"]}},"xrefs":[{"source":"OMIM","code":"256020","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N07.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009724","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537228","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403548","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"321","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"LMX1B","name":"LIM homeobox transcription factor 1 beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25713721[PMID]_24042019[PMID]","hgnc":"6654","ensembl":"ENSG00000136944","omim":"602575","loci":["9q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6507504[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6507504[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-14","source":null,"terms":[{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}