Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":20,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":20,"sourceGroups":{"omim":0,"orphanet":0,"published":20}},"features":[{"hpoId":"HP:0003418","label":"Back pain","primary":false},{"hpoId":"HP:0008676","label":"Congenital megaureter","primary":false},{"hpoId":"HP:0000086","label":"Ectopic kidney","primary":false},{"hpoId":"HP:0030157","label":"Flank pain","primary":false},{"hpoId":"HP:0000126","label":"Hydronephrosis","primary":false},{"hpoId":"HP:0000072","label":"Hydroureter","primary":false},{"hpoId":"HP:0004719","label":"Hyperechogenic kidneys","primary":false},{"hpoId":"HP:0000003","label":"Multicystic kidney dysplasia","primary":false},{"hpoId":"HP:0000110","label":"Renal dysplasia","primary":false},{"hpoId":"HP:0000089","label":"Renal hypoplasia","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0003774","label":"Stage 5 chronic kidney disease","primary":false},{"hpoId":"HP:0000122","label":"Unilateral renal agenesis","primary":false},{"hpoId":"HP:0000074","label":"Ureteropelvic junction obstruction","primary":false},{"hpoId":"HP:0000076","label":"Vesicoureteral reflux","primary":false}],"ledeHtml":"Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.","mondoId":"MONDO:0019719","records":[{"frequencyKind":"count","key":"15854d310e0f8a804daa7bf3535a6e13d3e6d91bf3311a348b9f0a2be28fd6cc","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:618270","disease_name":"Congenital anomalies of kidney and urinary tract 3","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":null,"reference":"PMID:28381549","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2dc8e3ccd34bf1ab7c6b9319ce9a8d3113a801271c37fee275b5dac74ce5e7bc","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:618270","disease_name":"Congenital anomalies of kidney and urinary tract 3","evidence":"PCS","frequency_raw":"4/7","hpo_id":"HP:0000076","is_excluded":false,"label":"Vesicoureteral reflux","onset_id":null,"reference":"PMID:28381549","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3f0dea55b70ecfe6d9fb45d393af8d333dad90f3423bab6afb26b0b882343374","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610805","disease_name":"Congenital anomalies of kidney and urinary tract, susceptibility to","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0000122","is_excluded":false,"label":"Unilateral renal agenesis","onset_id":null,"reference":"PMID:23862974","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"400785ee0c8e1c539aacb186f75fbe092c328407a6504e1bb5a3c89ba08cb105","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"5/12","hpo_id":"HP:0000074","is_excluded":false,"label":"Ureteropelvic junction obstruction","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"538a0e16497a9f247ae3f32cd0f3521c4ea0717e352c222e14111e891081998c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610805","disease_name":"Congenital anomalies of kidney and urinary tract, susceptibility to","evidence":"PCS","frequency_raw":"3/12","hpo_id":"HP:0003774","is_excluded":false,"label":"Stage 5 chronic kidney disease","onset_id":null,"reference":"PMID:23862974","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"57568155ef65f4832c32dd9bbf0984c9c348c1989c5d651f3d949e875b37e167","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0000072","is_excluded":false,"label":"Hydroureter","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"60871a741477d8a361034c17f1005e63277aec4197ee613e9da1633a9baf5349","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:618270","disease_name":"Congenital anomalies of kidney and urinary tract 3","evidence":"PCS","frequency_raw":"2/7","hpo_id":"HP:0000089","is_excluded":false,"label":"Renal hypoplasia","onset_id":null,"reference":"PMID:28381549","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6c39aa548b4cacd7ff991159efcbb0ad7f296e12090e7b8ab582c9f33d17f56c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:618270","disease_name":"Congenital anomalies of kidney and urinary tract 3","evidence":"PCS","frequency_raw":"2/7","hpo_id":"HP:0000086","is_excluded":false,"label":"Ectopic kidney","onset_id":null,"reference":"PMID:28381549","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"74298048ac485deaf1545ce484e40e395a490938c3b7c90de0c480fcb33c5acc","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"2/12","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":"HP:0011461","reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8887552cd6526980d5e4753cc6bfb56f2373942973fd137ca5d2c059c2a4367c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610805","disease_name":"Congenital anomalies of kidney and urinary tract, susceptibility to","evidence":"PCS","frequency_raw":"6/12","hpo_id":"HP:0000089","is_excluded":false,"label":"Renal hypoplasia","onset_id":null,"reference":"PMID:23862974","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b0181e9b6034161c5e02d3896af05759f85f3f570f028af298074b55de701ada","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"3/12","hpo_id":"HP:0030157","is_excluded":false,"label":"Flank pain","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b463b651065a390d3dd0398c718380b28c3e530d672fb16a6d35939682658218","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610805","disease_name":"Congenital anomalies of kidney and urinary tract, susceptibility to","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0000076","is_excluded":false,"label":"Vesicoureteral reflux","onset_id":null,"reference":"PMID:23862974","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b4c990592a1d9b05b1b3b10451319d78b6a30c1b843f136c4616a5e32df6dcfe","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:618270","disease_name":"Congenital anomalies of kidney and urinary tract 3","evidence":"PCS","frequency_raw":"1/7","hpo_id":"HP:0000003","is_excluded":false,"label":"Multicystic kidney dysplasia","onset_id":null,"reference":"PMID:28381549","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b9693ea19ec801f0be6a8c40d232424d75ffc53024a7334ddcb07867c54ee96a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0000089","is_excluded":false,"label":"Renal hypoplasia","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"be77b86260f9c20c05f7222b09b691f3860c582b0e5e2c1d0384a302dff2e52b","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0008676","is_excluded":false,"label":"Congenital megaureter","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c7ca3f969750ad97f3df6e3618a16c615d1e6cc369d5b7a7a6cae0905442f239","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"2/12","hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d2055efd66583baacec081ef41117fa24283ff42b46eefc9487cd4da8bc1580e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0004719","is_excluded":false,"label":"Hyperechogenic kidneys","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e19c145e732a39aa879bf81204f694584c8261dc61d4721d7bf72bd875cdb578","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0003418","is_excluded":false,"label":"Back pain","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ee6917e1abc153e47fa84053c874ba7ee1e8fc38c79cfc483053125b5e586aff","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610805","disease_name":"Congenital anomalies of kidney and urinary tract, susceptibility to","evidence":"PCS","frequency_raw":"3/12","hpo_id":"HP:0000074","is_excluded":false,"label":"Ureteropelvic junction obstruction","onset_id":null,"reference":"PMID:23862974","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fbd843d948150c4c21792393217624876d79070c1a6fd3c101b2438df16ac9f1","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:143400","disease_name":"Congenital anomalies of kidney and urinary tract 2","evidence":"PCS","frequency_raw":"1/12","hpo_id":"HP:0000110","is_excluded":false,"label":"Renal dysplasia","onset_id":null,"reference":"PMID:26235987","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"The causes of CAKUT are complex. It is likely that a combination of genetic and environmental factors contribute to the formation of kidney and urinary tract abnormalities.
The genetic factors involved in most cases of CAKUT are unknown. Syndromic CAKUT is caused by changes in the genes associated with the particular syndrome. Variations in these same genes can also underlie some cases of isolated CAKUT. The genes most commonly associated with isolated CAKUT are PAX2, which is also associated with renal coloboma syndrome, and HNF1B, which is involved in 17q12 deletion syndrome and RCAD syndrome. These two genes play critical roles in the formation of the kidneys, urinary tract, and other tissues and organs during embryonic development. Certain mutations in these genes are thought to disrupt development of the kidneys or other parts of the urinary tract before birth, leading to CAKUT. Mutations in many other genes involved in development of the urinary system have also been associated with isolated or syndromic CAKUT.
Research shows that the same genetic mutation can lead to different kidney or urinary tract abnormalities, even among members of the same family. It is likely that additional changes in other genes help determine how the condition develops and how severe it is. In addition, environmental factors may influence development of CAKUT. The risk of CAKUT is higher in babies whose mothers had diabetes; took certain medications that are harmful to the kidneys, such as some anti-seizure drugs; or lacked certain vitamins and minerals, such as folate and iron, during pregnancy.
","key":"forms","title":"What causes Congenital anomalies of kidney and urinary tract?"},{"bodyHtml":"Individuals with CAKUT have one or more kidney or urinary tract abnormalities. For paired structures, like the kidneys and ureters, one or both may be affected. Many different developmental abnormalities are classified as CAKUT, including underdevelopment or absence of a kidney (renal hypodysplasia or agenesis), a kidney formed of fluid-filled sacs called cysts (multicystic dysplastic kidney), buildup of urine in the kidneys (hydronephrosis), an extra ureter leading to the kidney (duplex kidney or duplicated collecting system), a blockage in a ureter where it joins the kidney (ureteropelvic junction obstruction), an abnormally wide ureter (megaureter), backflow of urine from the bladder into the ureter (vesicoureteral reflux), and an abnormal membrane in the urethra that blocks the flow of urine out of the bladder (posterior urethral valve).
CAKUT varies in severity. The abnormalities can result in recurrent urinary tract infections or a buildup of urine in the urinary tract, which may damage the kidneys or other structures. Severe CAKUT can result in life-threatening kidney failure and end-stage renal disease.
CAKUT is often one of several features of a condition that affects multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in addition to other problems. However, urinary system abnormalities sometimes occur without other signs and symptoms, which is known as nonsyndromic or isolated CAKUT.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"congenital-anomalies-of-kidney-and-urinary-tract","sourceDocuments":[{"name":"Congenital anomalies of kidney and urinary tract","reviewed":"2018-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:32.362767+00:00","label":"Causes","pageSha256":"42fe3690e0f19520114f96db5eacbe578c55a36a14085ee2a1243de6cbfeaec2","sourceUrl":"https://medlineplus.gov/genetics/condition/congenital-anomalies-of-kidney-and-urinary-tract/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/congenital-anomalies-of-kidney-and-urinary-tract"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Congenital anomalies of kidney and urinary tract"},"schemaVersion":1}