{"orpha":93101,"name":"Renal hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93101/","orphanet_url":"https://www.orpha.net/en/disease/detail/93101","names":{"fr":{"name":"Hypoplasie rénale","definition":"Malformation congénitale du rein caractérisée par une taille anormalement petite du ou des reins (taille du rein est inférieure de deux écarts-types à celle d'individus normaux du même âge ou à la moitié de la taille normale suivant l'âge du patient) associée à une différenciation corticomédullaire normale et un nombre réduit de néphrons."},"de":{"name":"Nierenhypoplasie","definition":"Eine angeborene renale Fehlbildung, die durch eine abnorm kleine Niere(n) gekennzeichnet ist (Nierenvolumen unter zwei Standardabweichungen des Volumens altersentsprechender normaler Individuen oder ein kombiniertes Nierenvolumen von weniger als der Hälfte des für das Alter des Patienten normalen Volumens) mit normaler kortikomedullärer Differenzierung und reduzierter Nephronenzahl."},"es":{"name":"Hipoplasia renal","definition":"Es una malformación renal congénita caracterizada por un(os) riñón(es) anormalmente pequeños (volumen del riñón inferior a dos desviaciones estándar del volumen renal de individuos normales de la misma edad o un volumen renal total inferior a la mitad del valor normal para la edad del paciente) con diferenciación corticomedular normal y un número reducido de nefronas."},"it":{"name":"Ipoplasia renale","definition":"Si tratta di una malformazione renale congenita, in cui uno o entrambi i reni hanno dimensioni ridotte (volume del rene inferiore di due deviazioni standard rispetto a quello dei soggetti normali della stessa età, oppure volume complessivo di entrambi i reni inferiore alla metà di quello normale per l'età). La differenziazione corticomidollare è normale, mentre è ridotto il numero dei nefroni."},"nl":{"name":"Hypoplasie van nier","synonyms":["Renale hypoplasie"],"definition":"Een congenitale niermalformatie, gekarakteriseerd door abnormaal kleine nier(en) (niervolume onder twee standaarddeviaties van dat van in leeftijd vergelijkbare normale individuen of een gecombineerd niervolume van minder dan de helft van wat normaal is voor de leeftijd van de patiënt) met normale corticomedullaire differentiatie en verminderd aantal nefronen."},"pt":{"name":"Hipoplasia renal"},"pl":{"name":"Hipoplazja nerek"},"cs":{"name":"Renální hypoplázie"},"uk":{"name":"Гіпоплазія нирок","definition":"A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons."},"zh":{"name":"肾发育不全","definition":"一种先天性肾畸形，其特征是肾脏异常小（肾体积低于与年龄相匹配的正常个体两个标准差，或合并肾体积小于患者年龄正常值的一半），肾脏皮髓质分化正常，肾单位数量减少。"},"tr":{"name":"Böbrek hipoplazisi"}},"xrefs":[{"source":"ICD-10","code":"Q60.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q60.4","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q60.5","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB30.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1972701518"},{"source":"MONDO","code":"0019637","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266295","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049102","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":357506,"name":"Genetic non-syndromic renal or urinary tract malformation","classifications":[156]},{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]}],"children":[{"orpha":97362,"name":"Renal hypoplasia, bilateral","type":"Clinical subtype"},{"orpha":97361,"name":"Renal hypoplasia, unilateral","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":97362,"name":"Renal hypoplasia, bilateral"}},{"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"],"via":{"orpha":97362,"name":"Renal hypoplasia, bilateral"}}],"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":"2021-03-02","source":"32520748[PMID]","terms":[{"hpo":"HP:0011035","label":"Abnormal renal cortex morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005563","label":"Decreased numbers of nephrons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030162","label":"Glomerulomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010481","label":"Urethral valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}