ORPHA:411709
Renal agenesis
Clinical definition (Orphanet)
A rare, renal tract characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).
How rare: How common this is has not been clearly measured.
Is anyone studying this?
8,197
8,197 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
8,197 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
4,264 in the last 10 years · low confidence
Is a treatment being tested?
3
trials for this specific condition
3 interventional trials matched this specific condition name; 3 currently recruiting in our sample.
Data as of 26 July 2026
3 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 79.4th percentile).
low confidence · 79.4th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (NPNT, RET, WNT9B).
GenCC classification: Strong.
Who's working on it?
1,221
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Wang X6 papers · 2026
Department of Radiology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 02Blumenfeld YJ4 papers · 2026
Division of Maternal-Fetal Medicine and Obstetrics, Department of Obstetrics & Gynecology, Stanford University School of Medicine, Stanford, California, USA.
Papers in Europe PMC - 03
- 04Johnson A4 papers · 2026
Department of Obstetrics and Gynecology and Reproductive Sciences, Division of Fetal Intervention, Health Science Center at Houston, John P. and Katherine G. McGovern Medical School, The University of Texas, Houston, Texas, USA.
Papers in Europe PMC - 05Cordisco A3 papers · 2026
Division of Prenatal Diagnosis P. Palagi and San Giovanni di Dio Hospital Florence Italy.
Papers in Europe PMC - 06Fortuna E3 papers · 2026
Obstetric and Prenatal Medicine Unit IRCCS Azienda Ospedaliero-Universitaria Sant'orsola-Malpighi Bologna Italy.
Papers in Europe PMC - 07Jelin AC3 papers · 2026
Division of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
Papers in Europe PMC - 08Liu J3 papers · 2026
Biochip Laboratory, Yantai Yuhuangding Hospital Affiliated to Qingdao University, Yantai, Shandong, China.
Papers in Europe PMC - 09Liu L3 papers · 2026
Department of Urology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases, Hangzhou, China.
Papers in Europe PMC - 10Liu Y3 papers · 2026
The Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Renal agenesis" OR "absent/small kidney" OR "absent/underdeveloped kidney" OR "renal agenesis (disease)" OR "renal agenesis/hypoplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Renal agenesis" OR "absent/small kidney" OR "absent/underdeveloped kidney" OR "renal agenesis (disease)" OR "renal agenesis/hypoplasia" OR "NPNT" OR "RET" OR "WNT9B"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C0542519 NCIT:C99041
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (8197) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity