RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:411709

Renal agenesis

low confidenceDisorder

Publications

11,095

Trials

2

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

NPNT, RET, WNT9B

Strong

Readiness

5/6

Stages with a signal

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

absent/small kidney · absent/underdeveloped kidney · renal agenesis · renal agenesis (disease) · renal agenesis/hypoplasia

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — NPNT, RET, WNT9B

  2. LiteraturePresent

    11,095 matched papers (6,352 in last 10 years) Source

  3. Phenotype characterisedPresent

    66 HPO annotations (e.g. Renal agenesis; Epicanthus; Hypertelorism) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (2 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (NPNT, RET, WNT9B).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

66

Associated phenotypes · MONDO:0018470

  • Renal agenesis
  • Epicanthus
  • Hypertelorism
  • Oligohydramnios
  • Nonketotic hypoglycemia

Showing 5 of 66 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

11,095

11,095 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=3967) is 59.

11,095 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

6,352 in the last 10 years · low confidence

Phrase hits: 8,197 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Wang 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
  2. 02
    Blumenfeld 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
  3. 03
    Ettoumi N4 papers · 2026

    Urology, Military Hospital Moulay Ismail, Meknès, MAR.

    Papers in Europe PMC
  4. 04
    Johnson 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
  5. 05
    Cordisco A3 papers · 2026

    Division of Prenatal Diagnosis P. Palagi and San Giovanni di Dio Hospital Florence Italy.

    Papers in Europe PMC
  6. 06
    Fortuna E3 papers · 2026

    Obstetric and Prenatal Medicine Unit IRCCS Azienda Ospedaliero-Universitaria Sant'orsola-Malpighi Bologna Italy.

    Papers in Europe PMC
  7. 07
    Jelin AC3 papers · 2026

    Division of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.

    Papers in Europe PMC
  8. 08
    Liu J3 papers · 2026

    Biochip Laboratory, Yantai Yuhuangding Hospital Affiliated to Qingdao University, Yantai, Shandong, China.

    Papers in Europe PMC
  9. 09
    Liu 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
  10. 10
    Liu Y3 papers · 2026

    The Second Affiliated Hospital of Harbin Medical University, Harbin, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 9 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Renal agenesis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 on the overview 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") OR ("NPNT" OR "NPNT syndrome" OR "NPNT-related" OR "WNT9B" OR "WNT9B syndrome" OR "WNT9B-related")

Run this search on Europe PMC

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"

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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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 (11095) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T01:59:00.399Z