{"orpha":97362,"name":"Renal hypoplasia, bilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of renal hypoplasia characterized by bilateral abnormally small kidneys with reduced number of nephrons. Patients are usually asymptomatic but may have hypertension, some excretory functional limitations, as well as eventual chronic renal failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97362/","orphanet_url":"https://www.orpha.net/en/disease/detail/97362","names":{"fr":{"name":"Hypoplasie rénale bilatérale","definition":"Forme d'hypoplasie rénale caractérisée par les deux reins de petite taille et par un nombre réduit de néphrons. Les patients sont généralement asymptomatiques, mais peuvent avoir une hypertension, une limitation fonctionnelle de certains organes excréteurs, et, à terme, une insuffisance rénale chronique."},"de":{"name":"Nierenhypoplasie, bilaterale","definition":"Eine Form der Nierenhypoplasie, die durch beidseitig ungewöhnlich kleine Nieren mit einer verminderten Anzahl von Nephronen gekennzeichnet ist. Der Zustand ist in der Regel asymptomatisch, kann aber mit Bluthochdruck und einigen Funktionseinschränkungen der Ausscheidungsorgane sowie schließlich mit chronischem Nierenversagen einhergehen."},"es":{"name":"Hipoplasia renal bilateral","definition":"Es una forma de hipoplasia renal caracterizada por riñones bilaterales anormalmente pequeños con un número reducido de nefronas. Los pacientes suelen permanecer asintomáticos, pero pueden presentar hipertensión, algunas limitaciones en la función excretora y, eventualmente, insuficiencia renal crónica."},"it":{"name":"Ipoplasia renale bilaterale","definition":"L'ipoplasia renale bilaterale è una forma di ipoplasia renale (si veda questo termine), un'anomalia dello sviluppo renale in cui entrambi i reni presentano piccole dimensioni ed un numero deficitario di nefroni."},"nl":{"name":"Bilaterale renale hypoplasie","definition":"Een vorm van hypoplasie van nier, gekenmerkt door bilateraal abnormaal kleine nieren met een verminderd aantal nefronen. Patiënten zijn meestal asymptomatisch, maar hebben mogelijk hypertensie, enkele functionele beperkingen van excretie, alsook uiteindelijk chronisch nierfalen."},"pt":{"name":"Hipoplasia renal, bilateral"},"pl":{"name":"Hipoplazja nerek, obustronna"},"cs":{"name":"Renální hypoplázie, oboustranná"},"uk":{"name":"Гіпоплазія нирок, двостороння","definition":"A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure."},"zh":{"name":"双侧肾发育不全","definition":"肾发育不全的一种形式，其特征是双侧肾缩小伴肾单位数量不足。这种情况通常是无症状的，但可能与高血压、部分排泄功能障碍，以及最终的慢性肾功能衰竭有关。"},"tr":{"name":"Böbrek hipoplazisi, bilateral"}},"xrefs":[{"source":"ICD-10","code":"Q60.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB30.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"705884961"},{"source":"MONDO","code":"0019980","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93101,"name":"Renal hypoplasia","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"PAX2","name":"paired box 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"11461952[PMID]_23539225[PMID]_22138676[PMID]_17513325[PMID]","hgnc":"8616","ensembl":"ENSG00000075891","omim":"167409","loci":["10q24.31"]},{"symbol":"PBX1","name":"PBX homeobox 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28270404[PMID]","hgnc":"8632","ensembl":"ENSG00000185630","omim":"176310","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-17","source":"34295353[PMID]_32520748[PMID]_30241513[PMID]_31060108[PMID]_20828237[PMID]_17403695[PMID]_34696790[PMID]_17403695[PMID]","terms":[{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002009","label":"Potter facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025466","label":"Beta 2-microglobulinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null}]}}