ORPHA:90307
Parkes Weber syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
583
86.4th percentile
Trials
1
Interventional, condition-specific
Researchers
995
Distinct authors in sample
Gene link
RASA1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare complex vascular syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020783
- OMIM:608354
- OMIM:608355
- UMLS:C4747394
Additional Mondo synonyms (3)
CMAVM1 · RASA1-related capillary malformation-arteriovenous malformation · capillary malformation-arteriovenous malformation 1
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
Definitive — RASA1
- LiteraturePresent
583 matched papers (343 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
1 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 (RASA1).
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?
583
583 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.
583 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).
343 in the last 10 years · medium confidence · 86.4th percentile (publications denominator)
Phrase hits: 583 · MeSH hits: 0
Who's working on it?
995
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.
- 01Greene AK4 papers · 2022
Department of Plastic and Oral Surgery, and Department of Radiology, Vascular Anomalies Center, Lymphedema Program Boston Children's Hospital, Harvard Medical School, Boston, Mass.
Papers in Europe PMC - 02Adams DM3 papers · 2021
Vascular Anomalies Center, Boston Children's Hospital, Boston, Massachusetts.
Papers in Europe PMC - 03Chung HY3 papers · 2025
Department of Plastic and Reconstructive Surgery, School of Medicine, Kyungpook National University, Daegu, Korea.
Papers in Europe PMC - 04Eyries M3 papers · 2022
Assistance Publique-Hôpitaux de Paris, Département de Génétique, GH Pitié-Salpêtrière, Paris, France.
Papers in Europe PMC - 05Palermo M3 papers · 2026
Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy.
Papers in Europe PMC - 06Rosen RJ3 papers · 2024
The AVM Center of New York at Lenox Hill, Northwell Health System, New York, NY.
Papers in Europe PMC - 07Sturiale CL3 papers · 2026
Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy. cropcircle.2000@virgilio.it.
Papers in Europe PMC - 08Sudduth CL3 papers · 2022
Lymphedema Program, Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 09Vikkula M3 papers · 2025
de Duve Institute, Université Catholique de Louvain, Human Molecular Genetics, Brussels, Belgium.
Papers in Europe PMC - 10Yang X3 papers · 2026
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, PR China. Electronic address: docyang9h@163.com.
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; none in our sample are currently recruiting.
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.
No currently recruiting studies in the matched set. Open the same 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 2026-07-26This 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.
"Parkes Weber syndrome" OR "CMAVM1" OR "RASA1-related capillary malformation-arteriovenous malformation" OR "capillary malformation-arteriovenous malformation 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Parkes Weber syndrome" OR "CMAVM1" OR "RASA1-related capillary malformation-arteriovenous malformation" OR "capillary malformation-arteriovenous malformation 1" OR "RASA1"
Recall-expansion terms: RASA1
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "RASA1-related capillary malformation-arteriovenous malformation" also appears on ORPHA:693907
Ingested 2026-07-27T03:43:58.109Z