ORPHA:140436
Familial intraosseous vascular malformation
Also known as: Hereditary intraosseous vascular malformation · VMOS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
824
83.7th percentile
Trials
0
Interventional, condition-specific
Researchers
961
Distinct authors in sample
Gene link
ELMO2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Primary intraosseous venous is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011744
- MeSH:C564648
- OMIM:606893
- UMLS:C1847197
Additional Mondo synonyms (2)
intraosseous hemangioma · osseous venous malformation
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 — ELMO2
- LiteraturePresent
824 matched papers (530 in last 10 years) Source
- Phenotype characterisedPresent
11 HPO annotations (e.g. Diastasis recti; Visual loss; Elevated circulating alkaline phosphatase concentration) 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 (ELMO2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
11
Associated phenotypes · MONDO:0011744
- Diastasis recti
- Visual loss
- Elevated circulating alkaline phosphatase concentration
- Supraumbilical raphe
- Facial asymmetry
Showing 5 of 11 — 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?
824
824 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.
824 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).
530 in the last 10 years · medium confidence · 83.7th percentile (publications denominator)
Phrase hits: 332 · MeSH hits: 0
Who's working on it?
961
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.
- 01Chandra SR3 papers · 2024
MD, DDS, Clinical Assistant Professor, 1959 NE Pacific St, Department of Oral & Maxillofacial Surgery, University of Washington School of Dentistry, Seattle, Washington 98195-7133, USA.
Papers in Europe PMC - 02Li Y3 papers · 2025
Department of Radiation Oncology, University of Tsukuba, Tsukuba, Ibaraki 305-8576, Japan.
Papers in Europe PMC - 03Wang W3 papers · 2025
The Affiliated Hospital of Qingdao University, Laoshan District, Qingdao City, China.
Papers in Europe PMC - 04Anagnostou E2 papers · 2022
Department of Neurosurgery, 401 General Military Hospital of Athens, Kanellopoulou & Mesogeion Avenue, 11527 Athens, Greece. Electronic address: anagnostou.evan@gmail.com.
Papers in Europe PMC - 05Belgadir H2 papers · 2024
Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, B.P 5696, Casablanca, Morocco.
Papers in Europe PMC - 06Blei F2 papers · 2025
Vascular Anomalies Program, Lenox Hill Hospital, Northwell Health, New York, NY, United States.
Papers in Europe PMC - 07Chen H2 papers · 2025
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 08Chen X2 papers · 2025
Department of Neurosurgery, Weifang People's Hospital Affiliated to Weifang Medical University, School of Clinical Medicine, Weifang Medical University, Weifang, China.
Papers in Europe PMC - 09Choi JS2 papers · 2020
Department of Plastic and Reconstructive Surgery, Pusan National University School of Medicine, Busan, Korea.
Papers in Europe PMC - 10Dean A2 papers · 2024
Maxillofacial Surgery Department, Reina Sofía University Hospital, Maimonides Institute for Biomedical Research of Córdoba (IMIBIC), 14004 Cordoba, Spain.
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.
medium 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 Familial intraosseous vascular 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.
("Familial intraosseous vascular malformation" OR "Hereditary intraosseous vascular malformation" OR "intraosseous hemangioma" OR "osseous venous malformation") OR (MESH:"Vascular Malformation, Primary Intraosseous") OR ("ELMO2" OR "ELMO2 syndrome" OR "ELMO2-related")MeSH descriptor terms unioned into the query: Vascular Malformation, Primary Intraosseous
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial intraosseous vascular malformation" OR "Hereditary intraosseous vascular malformation" OR "intraosseous hemangioma" OR "osseous venous malformation" OR "Vascular Malformation, Primary Intraosseous"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: VMOS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T07:41:36.047Z