{"orpha":2260,"name":"Oligomeganephronia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Oligomeganephronic renal hypoplasia"],"definition":"A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2260/","orphanet_url":"https://www.orpha.net/en/disease/detail/2260","names":{"fr":{"name":"Oligoméganéphronie","synonyms":["Hypoplasie rénale oligoméganéphronique"],"definition":"Malformation rare du rein caractérisée par une réduction de 80 % du nombre de néphrons et par une hypertrophie marquée des glomérules et des tubules."},"de":{"name":"Oligomeganephronie","definition":"Eine seltene Fehlbildung der Niere, die durch eine um 80 % reduzierte Nephronzahl und eine ausgeprägte Hypertrophie der Glomeruli und Tubuli gekennzeichnet ist."},"es":{"name":"Oligomeganefronia","definition":"Es una malformación renal poco frecuente caracterizada por reducción del 80% del número de nefronas e hipertrofia acusada de los glomérulos y los túbulos."},"it":{"name":"Oligomeganefronia","definition":"Si tratta di una malformazione rara dei reni, caratterizzata da una riduzione dell'80% del numero di nefroni e da una marcata ipertrofia dei glomeruli e dei tubuli."},"nl":{"name":"Oligomeganefronie","synonyms":["Oligomeganefronische hypoplasie van nier"],"definition":"Een zeldzame malformatie van nier, gekenmerkt door afname van het aantal nefronen met 80% en opmerkelijke hypertrofie van glomeruli en tubuli."},"pt":{"name":"Oligomeganefronia","synonyms":["Hipoplasia renal oligomeganefrónica"]},"pl":{"name":"Oligomeganefronia","synonyms":["Oligomeganefronowa hipoplazja nerek"]},"cs":{"name":"Oligomeganefronie","synonyms":["Oligomeganefronická renální hypoplázie"]},"uk":{"name":"Олігомеганефронія","synonyms":["Олігомеганефронічна гіпоплазія нирок"],"definition":"A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules."},"zh":{"name":"肾小球巨大稀少症","synonyms":["肾单位过少性肾发育不全"]},"tr":{"name":"Oligomeganefroni","synonyms":["Oligomeganefronik renal hipoplazi"]}},"xrefs":[{"source":"ICD-10","code":"Q60.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB30.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1283447040"},{"source":"MONDO","code":"0016407","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431694","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4066","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":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-05","source":"24765519[PMID]_32520748[PMID]_25731007[PMID]","terms":[{"hpo":"HP:0012575","label":"Abnormal nephron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012584","label":"Bilateral renal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005563","label":"Decreased numbers of nephrons","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030162","label":"Glomerulomegaly","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:0011035","label":"Abnormal renal cortex morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025361","label":"Abnormality of medullary pyramid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000092","label":"Renal tubular atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009796","label":"Branchial cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006518","label":"Pulmonary venous occlusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001684","label":"Secundum atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null}]}}