ORPHA:3205
Sturge-Weber syndrome
Also known as: Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis · SWS · Sturge-Weber-Dimitri syndrome · Sturge-Weber-Krabbe angiomatosis · Sturge-Weber-Krabbe syndrome
Publications
4,261
95.3th percentile
Trials
17
Interventional, condition-specific
Researchers
1,028
Distinct authors in sample
Gene link
GNAQ
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008501
- MeSH:D013341
- OMIM:185300
- UMLS:C0038505
- NCIT:C3391
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — GNAQ
- LiteraturePresent
4,261 matched papers (1,840 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
17 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 (GNAQ).
GenCC classification: Strong.
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?
4,261
4,261 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.
4,261 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).
1,840 in the last 10 years · medium confidence · 95.3th percentile (publications denominator)
Phrase hits: 4,261 · MeSH hits: 0
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.
- 01Wang X10 papers · 2026
Department of Neurosurgery, SanBo Brain Hospital, Capital Medical University, Beijing, 100093, China.
Papers in Europe PMC - 02Guan Y5 papers · 2026
Department of Neurosurgery, SanBo Brain Hospital, Capital Medical University, Beijing, 100093, China.
Papers in Europe PMC - 03Juhász C5 papers · 2026
Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI, USA.
Papers in Europe PMC - 04Luan G5 papers · 2026
Department of Neurosurgery, SanBo Brain Hospital, Capital Medical University, Beijing, 100093, China.
Papers in Europe PMC - 05Luat AF5 papers · 2026
Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI, USA.
Papers in Europe PMC - 06Behen ME4 papers · 2026
Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI, USA.
Papers in Europe PMC - 07Li Y4 papers · 2026
Department of Cerebrovascular Surgery, Saitama Medical University International Medical Center, Hidaka-shi, Saitama, Japan.
Papers in Europe PMC - 08Liu 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 - 09Pinto 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 - 10Zhou 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?
17
interventional trials for this specific condition
17 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
17 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.9th percentile).
medium confidence · 93.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
17 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT03947385·RECRUITING·Study of IDE196 in Patients With Solid Tumors Harboring GNAQ/11 Mutations or PRKC Fusions
Conditions: Metastatic Uveal Melanoma · Cutaneous Melanoma · Colorectal Cancer · Other Solid Tumors·Matched via name phrase
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
- NCT07655492·RECRUITING·Developing a Tailored Neuropsychological Rehabilitation for Sturge-Weber Syndrome
Conditions: Sturge - Weber Syndrome (SWS)·Matched via name phrase
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 2026-07-26This 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"
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" OR "GNAQ"
Recall-expansion terms: GNAQ
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: 17 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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