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ORPHA:3205

Sturge-Weber syndrome

medium confidenceDisorder

Also known as: Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis · SWS · Sturge-Weber-Dimitri syndrome · Sturge-Weber-Krabbe angiomatosis · Sturge-Weber-Krabbe syndrome

Publications

9,441

95.3th percentile

Trials

13

Interventional, condition-specific

Researchers

1,028

Distinct authors in sample

Gene link

GNAQ

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurocutaneous syndrome defined by a facial capillary or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications.

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 (7)

Sturge Weber Syndrome · Sturge Weber syndrome · Sturge-Weber disease · Sturge-Weber syndrome, somatic, mosaic · encephalofacial angiomatosis · encephalotrigeminal angiomatosis · encephalotrigeminal 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

    Strong — GNAQ

  2. LiteraturePresent

    9,441 matched papers (5,852 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Buphthalmos; Choroidal hemangioma; Macrocephaly) 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

    13 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 (GNAQ).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0008501

  • Buphthalmos
  • Choroidal hemangioma
  • Macrocephaly
  • Intellectual disability
  • Arachnoid hemangiomatosis

Showing 5 of 60 — 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

3

Drugs / clinical candidates · MONDO_0008501

CTD chemicals (MyDisease.info)

1 associated chemical · 54 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Phenobarbital · therapeutic

Pathways: Rap1 signaling pathway; Calcium signaling pathway; cGMP-PKG signaling pathway; Sphingolipid signaling pathway; Adrenergic signaling in cardiomyocytes; Vascular smooth muscle contraction; Apelin signaling pathway; Gap junction

MyDisease.info · MONDO:0008501

Literature

Is anyone studying this?

9,441

9,441 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,441 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).

5,852 in the last 10 years · medium confidence · 95.3th percentile (publications denominator)

Phrase hits: 4,261 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,028

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
    Wang X10 papers · 2026

    Department of Neurosurgery, SanBo Brain Hospital, Capital Medical University, Beijing, 100093, China.

    Papers in Europe PMC
  2. 02
    Guan Y5 papers · 2026

    Department of Neurosurgery, SanBo Brain Hospital, Capital Medical University, Beijing, 100093, China.

    Papers in Europe PMC
  3. 03
    Juhász C5 papers · 2026

    Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI, USA.

    Papers in Europe PMC
  4. 04
    Luan G5 papers · 2026

    Department of Neurosurgery, SanBo Brain Hospital, Capital Medical University, Beijing, 100093, China.

    Papers in Europe PMC
  5. 05
    Luat AF5 papers · 2026

    Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI, USA.

    Papers in Europe PMC
  6. 06
    Behen ME4 papers · 2026

    Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI, USA.

    Papers in Europe PMC
  7. 07
    Li Y4 papers · 2026

    Department of Cerebrovascular Surgery, Saitama Medical University International Medical Center, Hidaka-shi, Saitama, Japan.

    Papers in Europe PMC
  8. 08
    Liu Y4 papers · 2025

    Epilepsy Center, Jinan Children's Hospital (Children's Hospital Affiliated to Shandong University), Jinan, Shandong 250000, P.R. China.

    Papers in Europe PMC
  9. 09
    Pinto AL4 papers · 2026

    Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: anna.pinto@childrens.harvard.edu.

    Papers in Europe PMC
  10. 10
    Zhou J4 papers · 2026

    Departments of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

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

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

13 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.5th percentile).

medium confidence · 93.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

13 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

6 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Sturge-Weber 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.

("Sturge-Weber syndrome" OR "Encephalofacial angiomatosis" OR "Encephalotrigeminal angiomatosis" OR "Sturge-Weber-Dimitri syndrome" OR "Sturge-Weber-Krabbe angiomatosis" OR "Sturge-Weber-Krabbe syndrome" OR "Sturge Weber Syndrome" OR "Sturge-Weber disease" OR "Sturge-Weber syndrome, somatic, mosaic" OR "encephalotrigeminal syndrome") OR ("GNAQ" OR "GNAQ syndrome" OR "GNAQ-related")

Run this search on Europe PMC

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

"Sturge-Weber syndrome" OR "Encephalofacial angiomatosis" OR "Encephalotrigeminal angiomatosis" OR "Sturge-Weber-Dimitri syndrome" OR "Sturge-Weber-Krabbe angiomatosis" OR "Sturge-Weber-Krabbe syndrome" OR "Sturge Weber Syndrome" OR "Sturge-Weber disease" OR "Sturge-Weber syndrome, somatic, mosaic" OR "encephalotrigeminal syndrome"

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: 13 interventional · 6 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

Synonyms dropped by stoplist: SWS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T22:29:39.001Z