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ORPHA:744

Proteus syndrome

low confidenceDisorder

Also known as: Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

Publications

1,831

Trials

4

Interventional, condition-specific

Researchers

1,017

Distinct authors in sample

Gene link

AKT1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare complex overgrowth syndrome characterized by overgrowth of the skeleton, skin, adipose, and central nervous systems.

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 (3)

Wiedemann's syndrome · partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome · proteus syndrome, somatic

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — AKT1

  2. LiteraturePresent

    1,831 matched papers (837 in last 10 years) Source

  3. Phenotype characterisedPresent

    146 HPO annotations (e.g. Capillary hemangioma; Vascular skin abnormality; Lymphangioma) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Miransertib Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

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 (AKT1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

146

Associated phenotypes · MONDO:0008318

  • Capillary hemangioma
  • Vascular skin abnormality
  • Lymphangioma
  • Abnormal lung lobation
  • Multiple cafe-au-lait spots

Showing 5 of 146 — 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA MiransertibTreatment of Proteus syndrome · 21/03/2018 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0008318

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,831

1,831 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.

1,831 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).

837 in the last 10 years · low confidence

Phrase hits: 1,831 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,017

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
    Biesecker LG21 papers · 2026

    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  2. 02
    Sapp JC11 papers · 2025

    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  3. 03
    Ours CA10 papers · 2026

    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  4. 04
    Keppler-Noreuil KM6 papers · 2026

    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  5. 05
    Darling TN5 papers · 2026

    Department of Dermatology, Uniformed Services University, Bethesda, Maryland. Electronic address: thomas.darling@usuhs.edu.

    Papers in Europe PMC
  6. 06
    Buser A4 papers · 2024

    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Hodges MB4 papers · 2025

    Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

    Papers in Europe PMC
  8. 08
    Lindhurst MJ4 papers · 2022

    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  9. 09
    Burton-Akright J3 papers · 2022

    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  10. 10
    Canaud G3 papers · 2026

    INSERM U1151, Institut Necker-Enfants Malades, Paris, France. guillaume.canaud@inserm.fr.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

2 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Proteus 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.

"Proteus syndrome" OR "Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome" OR "Wiedemann's syndrome" OR "proteus syndrome, somatic"

Run this search on Europe PMC

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

"Proteus syndrome" OR "Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome" OR "Wiedemann's syndrome" OR "proteus syndrome, somatic"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 2 observational · 1 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 (1831) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:08:26.636Z