ORPHA:693912
EPHB4-related capillary malformation-arteriovenous malformation
Also known as: CM-AVM2
Publications
4,827
Trials
0
Interventional, condition-specific
Researchers
528
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare capillary -arteriovenous characterized by multifocal pink-to-red cutaneous capillary malformations, mainly localized on the extremities, trunk, head and neck. Bier spots, epistaxis, and telangiectasias on the lips, perioral region and on the upper thorax are frequently observed. Arteriovenous malformations and fistulas involving muscle, bone, the spine and the brain may also be present. Most patients are asymptomatic except for the capillary malformations, the family history is often positive for capillary malformations.
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.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
4,827 matched papers (2,956 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
4,827
4,827 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.
4,827 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).
2,956 in the last 10 years · low confidence
Phrase hits: 65 · MeSH hits: 0
Who's working on it?
528
Distinct author names in 65 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.
- 01Chen D5 papers · 2024
Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA.
Papers in Europe PMC - 02King PD5 papers · 2024
Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA. kingp@umich.edu.
Papers in Europe PMC - 03Vikkula M5 papers · 2025
Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Papers in Europe PMC - 04Zeng X5 papers · 2023
Department of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA.
Papers in Europe PMC - 05Kim H4 papers · 2021
Department of Anesthesia and Perioperative Care, Center for Cerebrovascular Research, University of California, San Francisco, USA.
Papers in Europe PMC - 06Adams DM3 papers · 2021
Vascular Anomalies Center, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States.
Papers in Europe PMC - 07Berenstein A3 papers · 2023
Department of Neurosurgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 08Blei F3 papers · 2020
Vascular Anomalies Program, Lenox Hill Hospital, Northwell Health, New York, NY, United States.
Papers in Europe PMC - 09Boon LM3 papers · 2025
From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).
Papers in Europe PMC - 10Britt A3 papers · 2026
Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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 EPHB4-related capillary malformation-arteriovenous 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.
("EPHB4-related capillary malformation-arteriovenous malformation" OR "CM-AVM2") OR ("EPHB4" OR "EPHB4 syndrome" OR "EPHB4-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"EPHB4-related capillary malformation-arteriovenous malformation" OR "CM-AVM2"
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 (4827) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T20:38:59.107Z