{"orpha":3033,"name":"Renal tubular dysgenesis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Primitive renal tubule syndrome","Renotubular dysgenesis"],"definition":"A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3033/","orphanet_url":"https://www.orpha.net/en/disease/detail/3033","names":{"fr":{"name":"Dysgénésie tubulaire rénale","definition":"Maladie foetale rare caractérisée par une absence ou dysgénésie tubulaire proximale, un oligohydramnios persistant, entraînant une séquence de Potter (dysmorphie faciale se traduisant par des oreilles larges et aplaties, implantées bas, une hypoplasie pulmonaire, une arthrogrypose et une déformation des membres), et des défauts d'ossification du crâne."},"de":{"name":"Dysgenesie, renale tubuläre","synonyms":["Dysgenesie der Nierentubuli","Primitives renal-tubuläres Syndrom","Renal-tubuläre Dysgenesie"],"definition":"Die Dysgenesie der Nierentubuli ist eine seltene fetale Störung mit fehlenden oder ungenügend entwickelten proximalen Nierentubuli. Die Folge ist ein persistierendes Oligohydramnion, das zur Potter-Sequenz (faziale Dysmorphien mit großen flachen tiefsitzenden Ohren, Lungenhypoplasie, Arthrogrypose, abnorme Haltung der Gliedmassen) und zu defekter Schädelverknöcherung führt."},"es":{"name":"Disgenesia tubular renal","synonyms":["Disgenesia renotubular","Síndrome tubulorrenal primitivo"],"definition":"Es un trastorno fetal poco frecuente caracterizado por la ausencia o escaso desarrollo de los túbulos proximales renales, oligohidramnios persistente que conduce a la secuencia de Potter (dismorfia facial con orejas grandes y planas, de implantación baja, hipoplasia pulmonar, artrogriposis y extremidades en posición anómala), y defectos de la osificación craneal."},"it":{"name":"Disgenesia dei tubuli renali","synonyms":["Disgenesia tubulare renale","Sindrome primitiva dei tubuli renali"],"definition":"Si tratta di una malattia fetale rara, caratterizzata da agenesia o iposviluppo dei tubuli prossimali dei reni, oligoidramnios persistente, che esita nella sequenza di Potter (dismorfismi facciali con orecchie grandi, piatte e a basso impianto, ipoplasia dei polmoni, artrogriposi e difetti di posizionamento degli arti) e anomalie dell'ossificazione del cranio."},"nl":{"name":"Renale tubulaire dysgenesie","synonyms":["Dysgenesie van niertubuli","Primitieve niertubuli-syndroom","Renotubulaire dysgenesie"],"definition":"Een zeldzame aandoening van foetus, gekenmerkt door afwezige of weinig ontwikkelde proximale niertubuli, persisterende oligohydramnion die leidt tot Potter-sequentie (faciale dysmorfie met grote, platte en laagstaande oren, hypoplasie van long, artrogrypose, en defecten van de positionering van ledematen), en defecten van ossificatie van schedel."},"pt":{"name":"Disgenesia tubular renal","synonyms":["Disgenesia renotubular","Síndrome tubulo-renal primitivo"],"definition":"Doença rara do feto caracterizada pela ausência ou reduzido desenvolvimento dos túbulos proximais renais, oligohidrâmnio persistente, levando à sequência de Potter (dismorfismo facial com orelhas amplas e achatadas com implantação baixa, hipoplasia pulmonar, artrogripose e defeitos no posicionamento dos membros) e anomalias na ossificação do crânio."},"pl":{"name":"Dysgenezja kanalików nerkowych","synonyms":["Dysgenezja nerkowo-kanalikowa","Zespół niezróżnicowanych kanalików nerkowych"]},"cs":{"name":"Renální tubulární dysgeneze","synonyms":["Primitivní renální tubulární syndrom","Renotubulární dysgeneze"]},"uk":{"name":"Дисгенезія ниркових канальців","synonyms":["Синдром примітивних ниркових канальців","Ренотубулярна дисгенезія"],"definition":"A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects."},"zh":{"name":"肾小管发育不全","synonyms":["原发性肾小管综合征"]},"tr":{"name":"Renal tübüler disgenezi","synonyms":["Renotübüler disgenezi","Primitif renal tübül sendromu"]}},"xrefs":[{"source":"OMIM","code":"267430","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q63.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB30.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"191424358"},{"source":"MONDO","code":"0017609","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266313","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"379","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]}],"children":[{"orpha":97368,"name":"Drug-related renal tubular dysgenesis","type":"Etiological subtype"},{"orpha":97367,"name":"Renal tubular dysgenesis due to twin-twin transfusion","type":"Etiological subtype"},{"orpha":97369,"name":"Renal tubular dysgenesis of genetic origin","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ACE","name":"angiotensin I converting enzyme","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116425[PMID]_22095942[PMID]","hgnc":"2707","ensembl":"ENSG00000159640","omim":"106180","loci":["17q23.3"],"via":{"orpha":97369,"name":"Renal tubular dysgenesis of genetic origin"}},{"symbol":"AGT","name":"angiotensinogen","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116425[PMID]_22095942[PMID]","hgnc":"333","ensembl":"ENSG00000135744","omim":"106150","loci":["1q42.2"],"via":{"orpha":97369,"name":"Renal tubular dysgenesis of genetic origin"}},{"symbol":"AGTR1","name":"angiotensin II receptor type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116425[PMID]_22095942[PMID]","hgnc":"336","ensembl":"ENSG00000144891","omim":"106165","loci":["3q24"],"via":{"orpha":97369,"name":"Renal tubular dysgenesis of genetic origin"}},{"symbol":"REN","name":"renin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116425[PMID]_22095942[PMID]","hgnc":"9958","ensembl":"ENSG00000143839","omim":"179820","loci":["1q32.1"],"via":{"orpha":97369,"name":"Renal tubular dysgenesis of genetic origin"}}],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"16790508[PMID]_19344005[PMID]_ 33163725[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000114","label":"Proximal tubulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008660","label":"Renotubular dysgenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}