ORPHA:140944
CLOVES syndrome
Also known as: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
Publications
534
Trials
3
Interventional, condition-specific
Researchers
1,133
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis characterized by lipomatous overgrowth, complex and combined vascular malformations affecting the trunk, and epidermal nevi.
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:0013038
- MeSH:C567863
- OMIM:612918
- UMLS:C2752042
- NCIT:C177122
Additional Mondo synonyms (4)
CLOVE syndrome, somatic · congenital lipomatous overgrowth, vascular malformations, and epidermal nevi · congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome · congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly 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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
534 matched papers (426 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
3 matched on ClinicalTrials.gov (2 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
534
534 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.
534 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).
426 in the last 10 years · low confidence
Phrase hits: 534 · MeSH hits: 0
Who's working on it?
1,133
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.
- 01
- 02Guibaud L7 papers · 2025
Institut national de la santé et de la recherche médicale U1151, Institut Necker-Enfants Malades , Paris, France.
Papers in Europe PMC - 03
- 04Goudin N6 papers · 2026
Necker Bio-Image Analysis, Institut national de la santé et de la recherche médicale , Paris, France.
Papers in Europe PMC - 05Villarese P6 papers · 2026
Laboratoire d'Oncohématologie, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris , Paris, France.
Papers in Europe PMC - 06
- 07Fraissenon A5 papers · 2025
Institut national de la santé et de la recherche médicale U1151, Institut Necker-Enfants Malades , Paris, France.
Papers in Europe PMC - 08Fraitag S5 papers · 2026
Service d'Anatomie Pathologique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris , Paris, France.
Papers in Europe PMC - 09Hoguin C5 papers · 2026
Institut national de la santé et de la recherche médicale U1151, Institut Necker-Enfants Malades , Paris, France.
Papers in Europe PMC - 10Kaltenbach S5 papers · 2025
Laboratoire d'Oncohématologie, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris , Paris, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
low confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07285005·RECRUITING·A Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES Syndrome
Conditions: Venous Malformations · Lymphatic Malformations · Klippel-Trenaunay Syndrome · CLOVES Syndrome·Matched via name phrase
- NCT06789913·RECRUITING·A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
Conditions: PIK3CA-Related Overgrowth Spectrum (PROS) · Lymphatic Malformations · Vascular Malformations · PIK3CA Mutation·Matched via name phrase
Observational and natural-history studies
3 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
- NCT02399527·RECRUITING·Lymphatic Anomalies Registry for the Assessment of Outcome Data
Conditions: Lymphatic Malformation · Generalized Lymphatic Anomaly (GLA) · Central Conducting Lymphatic Anomaly · CLOVES Syndrome·Matched via name phrase
- NCT03001180·RECRUITING·Identification of Biomarkers for Patients with Vascular Anomalies
Conditions: Vascular Anomaly · Generalized Lymphatic Anomaly · Kaposiform Hemangioendothelioma · Kaposiform Lymphangiomatosis·Matched via name + MeSH
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.
"CLOVES syndrome" OR "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" OR "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" OR "CLOVE syndrome, somatic" OR "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi"
MeSH descriptor terms unioned into the query: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLOVES syndrome" OR "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" OR "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" OR "CLOVE syndrome, somatic" OR "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi"
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: 3 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (534) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:47:16.463Z