ORPHA:1851
Multicystic dysplastic kidney
Also known as: MCDK · Multicystic renal dysplasia
Publications
2,033
Trials
2
Interventional, condition-specific
Researchers
1,112
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.
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:0015988
- MeSH:D021782
- UMLS:C3714581
- NCIT:C123031
Additional Mondo synonyms (1)
multicystic 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.”
3/6 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
2,033 matched papers (948 in last 10 years) Source
- Phenotype characterisedPresent
15 HPO annotations (e.g. Cryptorchidism; Neonatal respiratory distress; Abdominal distention) Source
- 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)
15
Associated phenotypes · MONDO:0015988
- Cryptorchidism
- Neonatal respiratory distress
- Abdominal distention
- Vesicoureteral reflux
- Enlarged kidney
Showing 5 of 15 — 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 2026-07-27
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)
2 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Carbamazepine · marker/mechanism
- Phenobarbital · marker/mechanism
Literature
Is anyone studying this?
2,033
2,033 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,033 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).
948 in the last 10 years · low confidence
Phrase hits: 2,033 · MeSH hits: 43
Who's working on it?
1,112
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.
- 01Liu J4 papers · 2025
Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 21102, China.
Papers in Europe PMC - 02Wang X4 papers · 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, China.
Papers in Europe PMC - 03Briggs DC3 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa. datonye.briggs1@ust.edu.ng.
Papers in Europe PMC - 04Brink A3 papers · 2026
Department of Nuclear Medicine Sciences Applications, Division of Human Health, Nuclear Medicine and Diagnostic Imaging Section, International Atomic Energy Agency, Vienna, Austria.
Papers in Europe PMC - 05Coetzee A3 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Papers in Europe PMC - 06Hlongwa K3 papers · 2026
Department of Nuclear Medicine, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Papers in Europe PMC - 07Langova K3 papers · 2026
Department of Medical Biophysics, Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, Czech Republic.
Papers in Europe PMC - 08Liu L3 papers · 2026
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, Guangdong, China.
Papers in Europe PMC - 09McCulloch M3 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Papers in Europe PMC - 10Nourse P3 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
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 9 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).
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.
- NCT06728228·RECRUITING·Amnioinfusion for Fetal Renal Failure
Confirmed·Conditions: Multicystic Dysplastic Kidney · Polycystic Kidney Disease · Fetal Renal Anomaly · Anhydramnios·Matched via name + MeSHBoth providers judged relevant.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Multicystic dysplastic kidney — 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.
"Multicystic dysplastic kidney" OR "Multicystic renal dysplasia"
MeSH descriptor terms unioned into the query: Multicystic Dysplastic Kidney
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multicystic dysplastic kidney" OR "Multicystic renal dysplasia"
Interventional trials matched via: both (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 · 1 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MCDK
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (2033) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T01:38:35.374Z