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ORPHA:137605

Legius syndrome

medium confidenceDisorder

Also known as: NF1-like syndrome · Neurofibromatosis 1-like syndrome · Nonmosaic LGSS · Nonmosaic Legius syndrome

Publications

2,532

90.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,291

Distinct authors in sample

Gene link

SPRED1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

neurofibromatosis 1-like syndrome

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

    Definitive — SPRED1

  2. LiteraturePresent

    2,532 matched papers (1,848 in last 10 years) Source

  3. Phenotype characterisedPresent

    66 HPO annotations (e.g. Abnormal sternum morphology; Multiple lipomas; Short stature) 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

    1 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?

Yes — we know a specific gene responsible (SPRED1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

66

Associated phenotypes · MONDO:0012669

  • Abnormal sternum morphology
  • Multiple lipomas
  • Short stature
  • Hearing impairment
  • Cataract

Showing 5 of 66 — 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?

2,532

2,532 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.

2,532 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).

1,848 in the last 10 years · medium confidence · 90.3th percentile (publications denominator)

Phrase hits: 576 · MeSH hits: 15

Open Europe PMC search

Who's working on it?

1,291

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
    Legius E12 papers · 2024

    Center for Human Genetics, University Hospitals Leuven and KULeuven, Belgium.

    Papers in Europe PMC
  2. 02
    Brems H8 papers · 2026

    Department of Human Genetics, University of Leuven, Herestraat 49, 3000, Leuven, Belgium.

    Papers in Europe PMC
  3. 03
    Vidaud D7 papers · 2025

    Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP.Centre-Université de Paris, Paris, France and Institut Cochin, Inserm U1016-CNRS UMR8104-Université de Paris, CARPEM, Paris, France.

    Papers in Europe PMC
  4. 04
    Messiaen L6 papers · 2024

    Department of Genetics, University of Alabama at Birmingham, Alabama, USA.

    Papers in Europe PMC
  5. 05
    Pasmant E6 papers · 2024

    Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP.Centre-Université de Paris, Paris, France and Institut Cochin, Inserm U1016-CNRS UMR8104-Université de Paris, CARPEM, Paris, France.

    Papers in Europe PMC
  6. 06
    Rauen KA6 papers · 2024

    Department of Pediatrics, Division of Medical Genetics, and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California 94115; email: rauenk@peds.ucsf.edu.

    Papers in Europe PMC
  7. 07
    Tartaglia M6 papers · 2025

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

    Papers in Europe PMC
  8. 08
    Esposito S5 papers · 2018

    Developmental Neurology Unit, 'C. Besta' National Neurological Institute Foundation, IRCCS , Milan, Italy.

    Papers in Europe PMC
  9. 09
    Yoshimura A5 papers · 2024

    Department of Microbiology and Immunology, Keio University School of Medicine.

    Papers in Europe PMC
  10. 10
    Burkitt-Wright E4 papers · 2026

    Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-30

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).

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 Legius 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.

("Legius syndrome" OR "NF1-like syndrome" OR "Neurofibromatosis 1-like syndrome" OR "Nonmosaic LGSS" OR "Nonmosaic Legius syndrome") OR (MESH:"Legius syndrome") OR ("SPRED1" OR "SPRED1 syndrome" OR "SPRED1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Legius syndrome

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

"Legius syndrome" OR "NF1-like syndrome" OR "Neurofibromatosis 1-like syndrome" OR "Nonmosaic LGSS" OR "Nonmosaic Legius syndrome"

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: 1 interventional · 5 observational · 0 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

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 2026-07-27T07:25:46.772Z