ORPHA:636941
Vascular Ehlers-Danlos-polymicrogyria syndrome
Also known as: Vascular EDS with polymicrogyria
Publications
18,196
Trials
0
Interventional, condition-specific
Researchers
38
Distinct authors in sample
Gene link
COL3A1
Strong
Readiness
3/6
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.”
3/6 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
18,196 matched papers (14,986 in last 10 years) Source
- Phenotype characterisedPresent
41 HPO annotations (e.g. Upslanted palpebral fissure; Varicose veins; Cortical dysplasia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
41
Associated phenotypes · MONDO:0032688
- Upslanted palpebral fissure
- Varicose veins
- Cortical dysplasia
- Vascular dilatation
- Long fingers
Showing 5 of 41 — 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
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
18,196
18,196 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.
18,196 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).
14,986 in the last 10 years · low confidence
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 Vascular Ehlers-Danlos-polymicrogyria syndrome — check Associations / patient organisations on that page.
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") OR ("COL3A1" OR "COL3A1 syndrome" OR "COL3A1-related")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"
Study-type breakdown: 0 interventional · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (18196) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T19:29:06.239Z