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
7,111
Trials
3
Interventional, condition-specific
Researchers
1,133
Distinct authors in sample
Gene link
—
Readiness
4/6
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.”
4/6 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
7,111 matched papers (3,729 in last 10 years) Source
- Phenotype characterisedPresent
61 HPO annotations (e.g. Hemihypertrophy; Bulbous tips of toes; Ulnar deviation of the hand) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
61
Associated phenotypes · MONDO:0013038
- Hemihypertrophy
- Bulbous tips of toes
- Ulnar deviation of the hand
- Cutis marmorata
- Intellectual disability
Showing 5 of 61 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Gt(ROSA)26Sortm7(Pik3ca*,-EGFP)Rsky/Gt(ROSA)26Sor+ Tg(CAG-cre/Esr1*)5Amc/0 [background:] B6.Cg-Gt(ROSA)26Sortm7(Pik3ca*,-EGFP)Rsky Tg(CAG-cre/Esr1*)5Amc·MGI:6197269·Mus musculus
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?
7,111
7,111 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.
7,111 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).
3,729 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 11 September 2026
3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).
low confidence · 86.7th 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
Not reviewed·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)
Not reviewed·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
Not reviewed·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
Not reviewed·Conditions: Vascular Anomaly · Generalized Lymphatic Anomaly · Kaposiform Hemangioendothelioma · Kaposiform Lymphangiomatosis·Matched via name + MeSH
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 CLOVES 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.
("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") OR (MESH:"Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi") OR ("CLOVES" OR "CLOVES-related")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 (7111) 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