RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:93108

Renal dysplasia

high confidenceDisorder

Also known as: Kidney dysplasia

Publications

5,629

92.2th percentile

Trials

2

Interventional, condition-specific

Researchers

1,186

Distinct authors in sample

Gene link

UPK3A

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare renal in which the kidney(s) are present but their development is abnormal, leading to of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal can be unilateral or bilateral, segmental, and of variable severity.

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 (2)

renal dysplasia · renal dysplasia (disease)

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — UPK3A

  2. LiteraturePresent

    5,629 matched papers (2,952 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Multicystic kidney dysplasia; Abnormal nephron morphology; Chronic kidney disease) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (1 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?

Possibly — only limited evidence so far for UPK3A.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0019638

  • Multicystic kidney dysplasia
  • Abnormal nephron morphology
  • Chronic kidney disease
  • Recurrent urinary tract infections
  • Pyelonephritis

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

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?

5,629

5,629 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.

5,629 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).

2,952 in the last 10 years · high confidence · 92.2th percentile (publications denominator)

Phrase hits: 5,072 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,186

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
    Li Y8 papers · 2026

    Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.

    Papers in Europe PMC
  2. 02
    Liu J5 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Wang H5 papers · 2025

    Department of Nephrology, Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, 100045, China. wanghui@bch.com.cn.

    Papers in Europe PMC
  4. 04
    Zhang C5 papers · 2026

    Department of Oncology, Anhui Chest Hospital, Hefei, Anhui, China.

    Papers in Europe PMC
  5. 05
    Zhang Y5 papers · 2026

    Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, 1838 Guangzhou Avenue North, Guangzhou, 510515, China.

    Papers in Europe PMC
  6. 06
    Zhao X5 papers · 2025

    Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan, 430071, China.

    Papers in Europe PMC
  7. 07
    Hilger AC4 papers · 2026

    Research Center on Rare Kidney Diseases (RECORD), ,

    Papers in Europe PMC
  8. 08
    Jiang X4 papers · 2025

    Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, 1838 Guangzhou Avenue North, Guangzhou, 510515, China.

    Papers in Europe PMC
  9. 09
    Li S4 papers · 2026

    Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  10. 10
    Peycelon M4 papers · 2026

    Department of Pediatric Surgery and Urology, National Reference Center for Rare Urinary Tract Malformations (CRMR MARVU), ERN eUROGEN, Robert-Debré University Hospital, APHP, GHU North, Université Paris Cité, 48, Boulevard Sérurier, 75019, Paris, France. matthieu.peycelon@aphp.fr.

    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; 1 currently recruiting in our sample.

Data as of 11 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).

high 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.

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 48 · after dedupe 48 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 48 · dropped 0 · fetched 2026-07-30

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 (48)

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 dysplasia — 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 dysplasia" OR "Kidney dysplasia" OR "renal dysplasia (disease)") OR ("UPK3A" OR "UPK3A syndrome" OR "UPK3A-related")

Run this search on Europe PMC

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

"Renal dysplasia" OR "Kidney dysplasia" OR "renal dysplasia (disease)"

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

Ingested 2026-07-27T04:06:10.520Z