RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:137605

Legius syndrome

medium confidenceDisorder

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

Publications

576

88.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,291

Distinct authors in sample

Gene link

SPRED1

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SPRED1

  2. LiteraturePresent

    576 matched papers (418 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

576

576 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=5449) is 41.

576 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).

418 in the last 10 years · medium confidence · 88.5th 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 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th 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

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 2026-07-26

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"

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" OR "SPRED1"

Recall-expansion terms: SPRED1

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, recall-expansion; 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