ORPHA:636941
Vascular Ehlers-Danlos-polymicrogyria syndrome
Also known as: Vascular EDS with polymicrogyria
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
38
Distinct authors in sample
Gene link
COL3A1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare type of Ehlers-Danlos syndrome characterized by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally-accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical , cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have , and may develop . Additional clinical features include spontaneous intracranial hypotension, intracranial hypertension, headache, chronic pain syndrome, peripheral , plexopathy, translucent skin and clubfoot. features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0032688
- OMIM:618343
- UMLS:C5193040
Additional Mondo synonyms (2)
polymicrogyria with or without vascular-type EDS · vascular Ehlers-Danlos-polymicrogyria 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — COL3A1
- LiteraturePresent
5 matched papers (5 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (COL3A1).
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?
5
5 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
5 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
38
Distinct author names in 5 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Li J2 papers · 2022
Tianjin Key Laboratory of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin Eye Hospital, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin 300020, P.R. China.
Papers in Europe PMC - 02Adams AD1 paper · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 03Bernardinelli L1 paper · 2019
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 04Berry AM1 paper · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 05Cao Z1 paper · 2021
National Centre for Human Genetic Resource, National Research Institute for Family Planning, Beijing 100081, China.
Papers in Europe PMC - 06Di Blasio AM1 paper · 2019
Istituto Auxologico Italiano IRCCS, Molecular Biology Laboratory, Cusano Milanino, Milano, Italy.
Papers in Europe PMC - 07Fazia T1 paper · 2019
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 08Gentilini D1 paper · 2019
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 09
- 10Gui B1 paper · 2023
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Vascular Ehlers-Danlos-polymicrogyria syndrome" OR "Vascular EDS with polymicrogyria" OR "polymicrogyria with or without vascular-type EDS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Vascular Ehlers-Danlos-polymicrogyria syndrome" OR "Vascular EDS with polymicrogyria" OR "polymicrogyria with or without vascular-type EDS" OR "COL3A1"
Recall-expansion terms: COL3A1
Study-type breakdown: 0 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
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T19:29:06.239Z