ORPHA:93173
Renal dysplasia, bilateral
Also known as: Kidney dysplasia, bilateral
Publications
241
60.5th percentile
Trials
2
Interventional, condition-specific
Researchers
1,446
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of renal (RD), a renal tract , characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019645
- UMLS:C0431698
Additional Mondo synonyms (1)
bilateral 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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
241 matched papers (128 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
241
241 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=3967) is 59.
241 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).
128 in the last 10 years · high confidence · 60.5th percentile (publications denominator)
Phrase hits: 241 · MeSH hits: 0
Who's working on it?
1,446
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.
- 01Hildebrandt F7 papers · 2023
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 02Tasic V5 papers · 2023
Medical Faculty Skopje, University Children's Hospital, Skopje, Macedonia; and.
Papers in Europe PMC - 03Di Sessa A3 papers · 2026
Department of Woman, Child and of General and Specialized Surgery, Università Degli Studi Della Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138, Naples, Italy.
Papers in Europe PMC - 04Guarino S3 papers · 2026
Department of Woman, Child and of General and Specialized Surgery, Università Degli Studi Della Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138, Naples, Italy.
Papers in Europe PMC - 05Hilger AC3 papers · 2023
Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
Papers in Europe PMC - 06Jiang G3 papers · 2026
Renal Division, Department of Internal Medicine, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 07Kolvenbach CM3 papers · 2023
Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 08La Manna A3 papers · 2026
Department of Woman, Child and of General and Specialized Surgery, Università Degli Studi Della Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138, Naples, Italy.
Papers in Europe PMC - 09Li J3 papers · 2023
Department of Nephrology and Rheumatology, Zhengzhou Key Laboratory of Pediatric Kidney Disease Research, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, 450018, China. ljtsuc@yeah.net.
Papers in Europe PMC - 10Li Y3 papers · 2022
Department of Pediatrics, Section of Pediatric Nephrology, Tulane University Health Sciences Center, New Orleans, LA 70112, USA.
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
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.
- NCT06728228·RECRUITING·Amnioinfusion for Fetal Renal Failure
Not reviewed·Conditions: Multicystic Dysplastic Kidney · Polycystic Kidney Disease · Fetal Renal Anomaly · Anhydramnios·Matched via name phrase
Broader category: renal dysplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 45 · after dedupe 45 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 45 · 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 (45)
- isrctn·ISRCTN73586959·No longer recruiting·Selected mesenchymal stromal cells to reduce liver inflammation
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12067514·No longer recruiting·Reduced Fetal Movement Intervention Trial (ReMIT-2)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN82045842·No longer recruiting·Randomised study comparing the metal ions released from two different hip resurfacing devices
skipped — LLM skipped (--skip-llm)
- ctis·2026-525162-21-00·Authorised·A Phase 2a, multi centric, open label clinical study to explore the safety and tolerability, the pharmacokinetics and pharmacodynamics profile and first signs of efficacy of PTI5803 administered as adjunctive therapy with a 3-dose escalation regimen in patients >= 14 years of age with drug-resistant seizures associated to focal cortical dysplasia, followed by an optional open-label extension study.
skipped — LLM skipped (--skip-llm)
- ctis·2023-507010-27-00·Authorised·CUSHMAH - Benefit of steroidogenesis inhibitors in Mild Cushing syndrome (Mild Autonomous Cortisol Secretion): a randomized trial in patients with Primary Bilateral Macronodular Adrenocortical Hyperplasia
skipped — LLM skipped (--skip-llm)
- ctis·2024-518072-31-00·Authorised, ongoing·Phase 2b, Randomized, Double-Blind, Placebo-Controlled Clinical Trial, Preceded by a Single Ascending Dose Portion and a Phase 2 Open-Label Portion, to Evaluate the Safety and Efficacy of Oral Infigratinib in Infants and Young Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-522575-29-00·Authorised, recruiting·Evaluation of the persistency of the preoperative anxiolytic effect of music therapy vs midazolam: electroencephalographic and clinical analysis
skipped — LLM skipped (--skip-llm)
- ctis·2025-523339-20-00·Authorised, ongoing·A dose-ranging randomized, open-label study evaluating the effect of bilateral intravitreal injection of GS010 at two dose levels on visual acuity and retinal mitochondrial activity in patients affected with ND4 Leber Hereditary Optic Neuropathy – The REVISE Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522719-40-00·Authorised, ongoing·GAIN-CTNNB1: A Phase I/II open-label trial to evaluate the safety, tolerability, and preliminary efficacy of a single intracerebroventricular administration of an AAV9-based gene replacement therapy in paediatric patients with CTNNB1 syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-522135-34-00·Authorised, ongoing·The effect of a superficial parasternal intercostal plane block in cardiac surgical patients undergoing conventional median sternotomy: a multicentric, double-blind, prospective, randomized controlled superiority trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515978-27-00·Authorised·Vitamin D as add-on treatment option of pneumonia and sepsis in elderly subjects (TreatViD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516924-32-00·Authorised, ongoing·A phase IIIb, Multicenter, Single-Arm Study Assessing the Effectiveness, Safety and Patient Reported Outcomes of a 36-week Refill Exchange Regimen for the Port Delivery System with Ranibizumab in Patients with Neovascular Age-Related Macular Degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2024-519555-28-00·Authorised, recruiting·EMPEROR: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel Group, Phase 3 Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen (STK-001) in Patients with Dravet Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-520619-15-00·Authorised, ongoing·Efficacy of Bilateral Greater Occipital Nerve Block as a Treatment for Headache Secondary to Spontaneous Subarachnoid Hemorrhage
skipped — LLM skipped (--skip-llm)
- ctis·2024-516148-24-00·Authorised, ongoing·A phase III, randomized, double-blinded study of the efficacy and safety of LEvetiracetam to prevent Seizures in Symptomatic Alzheimer's Disease in adults with Down syndrome (the LESS-AD trial).
skipped — LLM skipped (--skip-llm)
- ctis·2024-515861-33-00·Authorised, recruiting·A Phase 2, Randomized, Multicenter, Study of Vosoritide in Children with Noonan Syndrome with Inadequate Growth During or After Human Growth Hormone Treatment
skipped — LLM skipped (--skip-llm)
- ctis·2024-518932-34-00·Authorised, ongoing·Effect of metyrapone on cardiovascular risk factors in patients with adrenal incidentalomas and subclinical/mild Cushing's syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2023-509341-12-00·Authorised, ongoing·AN OPEN LABEL, RANDOMISED, CONTROLLED CLINICAL TRIAL TO ASSESS THE SAFETY OF ENDOBRONCHIAL ADMINISTRATION OF ALLOGENEIC MESENCHYMAL STROMAL CELLS IN PATIENTS WITH LUNG TRANSPLANT CHRONIC REJECTION: Study ENDOSC-CLAD
skipped — LLM skipped (--skip-llm)
- ctis·2024-518147-37-00·Authorised·Upper-limb Active Function and Botulinum Toxin A
skipped — LLM skipped (--skip-llm)
- ctis·2024-512968-57-00·Authorised, ongoing·RESTART; Autologous Transplantation of Adult Salivary Gland Stem Cells to Restore Submandibular Gland Function after Radiotherapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-513939-24-00·Authorised, ongoing·Cultured Autologous Oral Mucosa Epithelial sheet for the Treatment of Bilateral Limbal Stem Cell Deficiency FEMJA for « Feuillet Epithélial de Muqueuse Jugale Autologue »
skipped — LLM skipped (--skip-llm)
- ctis·2024-517275-21-00·Authorised, ongoing·"RETINO 2011" : Conservative treatment of patients with retinoblastoma
skipped — LLM skipped (--skip-llm)
- ctis·2024-513371-41-00·Authorised, ongoing·UVB : Multicenter, randomized, prospective trial comparing the Efficacy and Safety of Adalimumab to that of Tocilizumab in severe uveitis of Behçet’s disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-511261-11-00·Cancelled·A randomized Phase 2, double-blind, placebo-controlled, parallel-group, 2-arm study to assess the efficacy, safety, and tolerability of subcutaneous lunsekimig in adult participants with chronic rhinosinusitis with nasal polyps (CRSwNP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511665-11-00·Cancelled·(22578) An open-label, non-randomized, multi-center, phase 4 pharmacokinetic study to evaluate the systemic exposure after bilateral intravitreal administration of high dose (8 mg) aflibercept in adults with diabetic macular edema or neovascular age-related macular degeneration
skipped — LLM skipped (--skip-llm)
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, bilateral — check Associations / patient organisations on that page.
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 on the overview but are not added to the query string.
"Renal dysplasia, bilateral" OR "Kidney dysplasia, bilateral" OR "bilateral renal dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Renal dysplasia, bilateral" OR "Kidney dysplasia, bilateral" OR "bilateral renal dysplasia"
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.
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 2026-07-27T04:08:16.237Z