ORPHA:2849
Perlman syndrome
Also known as: Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
292
75.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,392
Distinct authors in sample
Gene link
DIS3L2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare overgrowth syndrome characterized by polyhydramnios, pre- and postnatal macrosomia, muscular , renal anomalies, organomegaly, abdominal distension, cryptorchidism, typical facial dysmorphism, neurodevelopmental delay and high mortality. Individuals surviving infancy show a high risk of developing Wilms tumor.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009965
- MeSH:C536399
- OMIM:267000
- UMLS:C0796113
- NCIT:C103144
Additional Mondo synonyms (6)
nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour · nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour · nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome · nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome · renal hamartomas, nephroblastomatosis and fetal gigantism · renal hamartomas, nephroblastomatosis and foetal gigantism
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — DIS3L2
- LiteraturePresent
292 matched papers (169 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (DIS3L2).
GenCC classification: Definitive.
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?
292
292 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.
292 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).
169 in the last 10 years · medium confidence · 75.9th percentile (publications denominator)
Phrase hits: 292 · MeSH hits: 0
Who's working on it?
1,392
Distinct author names in 200 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.
- 01Arraiano CM5 papers · 2023
Instituto de Tecnologia Química e Biológica António Xavier, Universidade Nova de Lisboa, Oeiras, Portugal.
Papers in Europe PMC - 02Gregory RI5 papers · 2020
Division of Hematology/Oncology, Stem Cell Program, Boston Children's Hospital, Boston, MA 02115, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Harvard Stem Cell Institute, Boston, MA 02115, USA. Electronic address: rgregory@enders.tch.harvard.edu.
Papers in Europe PMC - 03Pirouz M4 papers · 2020
Division of Hematology/Oncology, Stem Cell Program, Boston Children's Hospital, Boston, MA 02115, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.
Papers in Europe PMC - 04Pritchard-Jones K4 papers · 2025
UCL Institute of Child Health,University College London,London,UK.
Papers in Europe PMC - 05Rossignol S4 papers · 2013Papers in Europe PMC
- 06Towler BP4 papers · 2020
a Brighton and Sussex Medical School, University of Sussex , Brighton , UK.
Papers in Europe PMC - 07Viegas SC4 papers · 2023
Instituto de Tecnologia Química e Biológica António Xavier, Universidade Nova de Lisboa, Oeiras, Portugal.
Papers in Europe PMC - 08Weksberg R4 papers · 2024
Department of Genetics and Genome Biology, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario M5G 1X8, Canada. rweksb@sickkids.ca
Papers in Europe PMC - 09Dziembowski A3 papers · 2025
Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 02-106 Warsaw, Poland andrzejd@ibb.waw.pl.
Papers in Europe PMC - 10Ebrahimi AG3 papers · 2020
Section on Islet Cell and Regenerative Biology, Joslin Diabetes Center, Harvard Medical School, Boston, MA 02115, USA.
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).
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Perlman syndrome" OR "Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome" OR "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour" OR "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour" OR "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome" OR "renal hamartomas, nephroblastomatosis and fetal gigantism" OR "renal hamartomas, nephroblastomatosis and foetal gigantism"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Perlman syndrome" OR "Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome" OR "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour" OR "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour" OR "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome" OR "renal hamartomas, nephroblastomatosis and fetal gigantism" OR "renal hamartomas, nephroblastomatosis and foetal gigantism" OR "DIS3L2"
Recall-expansion terms: DIS3L2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T21:26:39.066Z