{"orpha":2670,"name":"Pierson syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcoria-congenital nephrosis syndrome"],"definition":"A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2670/","orphanet_url":"https://www.orpha.net/en/disease/detail/2670","names":{"fr":{"name":"Syndrome de Pierson","synonyms":["Syndrome de microcorie-néphrose congénitale"],"definition":"Maladie glomérulaire primaire rare caractérisée par l'association d'un syndrome néphrotique congénital, d'une insuffisance rénale précoce et d'anomalies oculaires avec microcorie et troubles graves du neuro-développement."},"de":{"name":"Pierson-Syndrom","synonyms":["Mikrokorie - kongenitale Nephrose"],"definition":"Eine seltene primäre glomeruläre Erkrankung, die durch die Assoziation eines kongenitalen nephrotischen Syndroms, einer früh einsetzenden Niereninsuffizienz und okulären Anomalien mit Mikrokorie und schweren Defiziten in der Neuroentwicklung gekennzeichnet ist."},"es":{"name":"Síndrome de Pierson","synonyms":["Síndrome de Glastre-Cochat-Bouvier","Síndrome nefrótico-anomalías oculares"],"definition":"Es una enfermedad glomerular primaria poco frecuente caracterizada por la asociación de síndrome nefrótico congénito, insuficiencia renal de aparición temprana y anomalías oculares con microcoria y graves déficits del neurodesarrollo."},"it":{"name":"Sindrome di Pierson","synonyms":["Microcoria - nefrosi congenita"],"definition":"La sindrome di Pierson è una glomerulopatia primitiva rara, caratterizzata dalla sindrome nefrosica congenita, dall'insufficienza renale ad esordio precoce, da anomalie oculari con microcoria e da gravi deficit dello sviluppo neurologico."},"nl":{"name":"Syndroom van Pierson","synonyms":["Microcorie - congenitale nefrose-syndroom"],"definition":"Een zeldzame primaire glomerulaire aandoening, gekenmerkt door associatie van congenitaal nefrotisch syndroom, vroeg aanvangend nierfalen en oculaire anomalieën met microcorie en ernstige neurologische ontwikkelingsachterstand."},"pt":{"name":"Síndrome Pierson","synonyms":["Síndrome de microcoria-nefrose congénita"],"definition":"A síndrome de Pierson é caracterizada pela associação de síndrome nefrótica congénita e anomalias oculares com microcoria."},"pl":{"name":"Zespół Piersona","synonyms":["Mikrokoria - wrodzony zespół nerczycowy"]},"cs":{"name":"Piersonův syndrom","synonyms":["Syndrom zahrnující mikrokorii a vrozenou nefrózu"]},"uk":{"name":"Синдром Пірсона","synonyms":["Синдром мікрокоріатичного вродженого нефрозу"],"definition":"A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits."},"zh":{"name":"Pierson综合征","synonyms":["小瞳孔-先天性肾病综合征"]},"tr":{"name":"Pierson sendromu","synonyms":["Mikrokori-Doğumsal nefroz sendromu"]}},"xrefs":[{"source":"OMIM","code":"609049","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614199","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"555082533"},{"source":"MONDO","code":"0012184","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537185","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836876","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9420","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":306507,"name":"LAMB2-related infantile-onset nephrotic syndrome","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"LAMB2","name":"laminin subunit beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24944146[PMID]","hgnc":"6487","ensembl":"ENSG00000172037","omim":"150325","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":98.0,"area":"Worldwide","status":"Validated","source":"29051055[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29051055[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-10","source":"17256789[PMID]_15372515[PMID]_37537573[PMID]","terms":[{"hpo":"HP:0008677","label":"Congenital nephrotic syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001967","label":"Diffuse mesangial sclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001104","label":"Macular hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025492","label":"Microcoria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007676","label":"Hypoplasia of the iris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007968","label":"Remnants of the hyaloid vascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034375","label":"Spherophakia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}