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ORPHA:2849

Perlman syndrome

low confidenceDisorder

Also known as: Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Publications

1,029

Trials

0

Interventional, condition-specific

Researchers

1,392

Distinct authors in sample

Gene link

DIS3L2

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — DIS3L2

  2. LiteraturePresent

    1,029 matched papers (776 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Tall stature; Abnormal upper lip morphology; Open mouth) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

68

Associated phenotypes · MONDO:0009965

  • Tall stature
  • Abnormal upper lip morphology
  • Open mouth
  • Macrocephaly
  • Micrognathia

Showing 5 of 68 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

1,029

1,029 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.

1,029 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).

776 in the last 10 years · low confidence

Phrase hits: 292 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Arraiano CM5 papers · 2023

    Instituto de Tecnologia Química e Biológica António Xavier, Universidade Nova de Lisboa, Oeiras, Portugal.

    Papers in Europe PMC
  2. 02
    Gregory 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
  3. 03
    Pirouz 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
  4. 04
    Pritchard-Jones K4 papers · 2025

    UCL Institute of Child Health,University College London,London,UK.

    Papers in Europe PMC
  5. 05
    Rossignol S4 papers · 2013
    Papers in Europe PMC
  6. 06
    Towler BP4 papers · 2020

    a Brighton and Sussex Medical School, University of Sussex , Brighton , UK.

    Papers in Europe PMC
  7. 07
    Viegas SC4 papers · 2023

    Instituto de Tecnologia Química e Biológica António Xavier, Universidade Nova de Lisboa, Oeiras, Portugal.

    Papers in Europe PMC
  8. 08
    Weksberg 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
  9. 09
    Dziembowski A3 papers · 2025

    Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 02-106 Warsaw, Poland andrzejd@ibb.waw.pl.

    Papers in Europe PMC
  10. 10
    Ebrahimi 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 2026-07-29

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 Perlman syndrome — 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.

("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" OR "DIS3L2 syndrome" OR "DIS3L2-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1029) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:26:39.066Z