ORPHA:83454
Glomuvenous malformation
Also known as: Glomangiomatosis · Hereditary multiple glomangiomas · Multiple glomus tumors · VMGLOM · Venous malformations with glomus cells
Publications
851
82.8th percentile
Trials
0
Interventional, condition-specific
Researchers
969
Distinct authors in sample
Gene link
GLMN
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.
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:0007672
- MeSH:C536827
- OMIM:138000
- UMLS:C1841984
- NCIT:C5350
Additional Mondo synonyms (6)
familial glomangioma · glomuvenous malformation · hereditary glomangioma · hereditary multiple glomangiomas · multiple glomus tumors · multiple glomus tumours
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
Definitive — GLMN
- LiteraturePresent
851 matched papers (476 in last 10 years) Source
- Phenotype characterisedPresent
18 HPO annotations (e.g. Abnormality of metabolism/homeostasis; Abnormality of the skin; Venous malformation) 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 (GLMN).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
18
Associated phenotypes · MONDO:0007672
- Abnormality of metabolism/homeostasis
- Abnormality of the skin
- Venous malformation
- Localized skin lesion
- Abnormal tracheal morphology
Showing 5 of 18 — 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)
1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Polidocanol · therapeutic
Literature
Is anyone studying this?
851
851 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=3967) is 59.
851 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).
476 in the last 10 years · high confidence · 82.8th percentile (publications denominator)
Phrase hits: 472 · MeSH hits: 1
Who's working on it?
969
Distinct author names in 200 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.
- 01Vikkula M8 papers · 2025
Human Molecular Genetics, Christian de Duve Institute, Université catholique de Louvain, Brussels, Belgium
Papers in Europe PMC - 02Boon LM5 papers · 2023
Center for Vascular Anomalies, Division of Plastic Surgery, University Clinics Saint-Luc, University of Louvain, Brussels, Belgium; VASCERN VASCA European Reference Centre.
Papers in Europe PMC - 03Mulliken JB5 papers · 2014Papers in Europe PMC
- 04Brouillard P4 papers · 2013
Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels, Belgium.
Papers in Europe PMC - 05Liu Y4 papers · 2026
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Science, Beijing, China.
Papers in Europe PMC - 06Baselga E3 papers · 2023
Pediatric Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain; VASCERN VASCA European Reference Centre.
Papers in Europe PMC - 07Dompmartin A3 papers · 2023
Dermatology Department CHU Caen Université Caen Normandie CHU Caen Côte nacre 14033 Caen Cedex, France.
Papers in Europe PMC - 08Enjolras O3 papers · 2005Papers in Europe PMC
- 09Happle R3 papers · 2023
Servicio de Dermatología, Universidad de Friburgo, Friburgo, Alemania.
Papers in Europe PMC - 10Jha A3 papers · 2021
Department of Pathology, Tribhuvan University, Institute of Medicine, Teaching Hospital, Maharajgunj, Kathmandu, Nepal.
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.
high 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 Glomuvenous malformation — 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.
("Glomuvenous malformation" OR "Glomangiomatosis" OR "Hereditary multiple glomangiomas" OR "Multiple glomus tumors" OR "VMGLOM" OR "Venous malformations with glomus cells" OR "familial glomangioma" OR "hereditary glomangioma" OR "multiple glomus tumours") OR (MESH:"Glomus vagale tumors") OR ("GLMN" OR "GLMN syndrome" OR "GLMN-related")MeSH descriptor terms unioned into the query: Glomus vagale tumors
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glomuvenous malformation" OR "Glomangiomatosis" OR "Hereditary multiple glomangiomas" OR "Multiple glomus tumors" OR "VMGLOM" OR "Venous malformations with glomus cells" OR "familial glomangioma" OR "hereditary glomangioma" OR "multiple glomus tumours" OR "Glomus vagale tumors"
Study-type breakdown: 0 interventional · 0 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:36:24.067Z