RARE DISEASERESEARCH ATLAS

ORPHA:93172

Renal dysplasia, unilateral

high confidenceSubtype of disorder

Also known as: Kidney dysplasia, unilateral

Publications

92

53th percentile

Trials

0

Interventional, condition-specific

Researchers

537

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A form of renal (RD) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

unilateral renal dysplasia

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    92 matched papers (49 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 2 for broader category renal dysplasia

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

92

92 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

92 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

49 in the last 10 years · high confidence · 53th percentile (publications denominator)

Phrase hits: 92 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

537

Distinct author names in 92 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Wang Y4 papers · 2025

    Department of Obstetrics, The Affiliated Huai'an No. 1 People's Hospital of Nanjing Medical University, Huai'an, China.

    Papers in Europe PMC
  2. 02
    Capitanucci ML2 papers · 2022

    ERN EUROGEN Affiliated Center, Division of Neuro-Urology and Surgery for Continence, Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  3. 03
    Curry CJ2 papers · 2023

    Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.

    Papers in Europe PMC
  4. 04
    Dai R2 papers · 2023

    Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  5. 05
    Du J2 papers · 2024
    Papers in Europe PMC
  6. 06
    Hsu CN2 papers · 2025

    Department of Pharmacy, Kaohsiung Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Kaohsiung, Taiwan.

    Papers in Europe PMC
  7. 07
    Li L2 papers · 2023

    Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.

    Papers in Europe PMC
  8. 08
    Liang G2 papers · 2024
    Papers in Europe PMC
  9. 09
    Lu PC2 papers · 2025

    Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Kaohsiung, Taiwan.

    Papers in Europe PMC
  10. 10
    Montini G2 papers · 2021

    Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione Ca' Granda IRCCS, Policlinico di Milano, Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2 trials are registered for renal dysplasia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

2 interventional trials matched renal dysplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: renal dysplasia

2

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-26

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 dysplasia, unilateral" OR "Kidney dysplasia, unilateral" OR "unilateral renal dysplasia"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Renal dysplasia, unilateral" OR "Kidney dysplasia, unilateral" OR "unilateral renal dysplasia"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"renal dysplasia"

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

Ingested 2026-07-27T04:08:06.209Z