ORPHA:221061
Familial cerebral cavernous malformation
Also known as: Familial brain cavernous angioma · Familial cerebral cavernoma · Hereditary brain cavernous angioma · Hereditary cerebral cavernoma · Hereditary cerebral cavernous malformation
Publications
171
70.3th percentile
Trials
1
Interventional, condition-specific
Researchers
920
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as , non-specific headaches, or transient focal neurologic deficits, and/or cerebral hemorrhages.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0031037
- UMLS:C2931263
Additional Mondo synonyms (9)
familial brain cavernous angioma · familial brain cavernous hemangioma · familial cerebral cavernoma · familial cerebral cavernous malformation · famililal cerebral cavernous malformations · hereditary brain cavernous angioma · hereditary brain cavernous hemangioma · hereditary cerebral cavernoma · hereditary cerebral cavernous 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.”
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
171 matched papers (126 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
1 matched on ClinicalTrials.gov
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?
171
171 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
171 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).
126 in the last 10 years · high confidence · 70.3th percentile (publications denominator)
Phrase hits: 171 · MeSH hits: 0
Who's working on it?
920
Distinct author names in 171 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.
- 01Kim H16 papers · 2025
Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address: helen.kim2@ucsf.edu.
Papers in Europe PMC - 02Hart BL10 papers · 2023
Department of Radiology, MSC10 5530, 1 University of New Mexico, Albuquerque, NM 87131, USA. Electronic address: bhart@salud.unm.edu.
Papers in Europe PMC - 03Nelson J10 papers · 2025
Department of Anesthesia and Perioperative Care, University of California, San Francisco, 1001 Potrero Avenue, Box 1363, San Francisco, 94143, California, USA.
Papers in Europe PMC - 04Morrison L8 papers · 2025
Department of Neurology, MSC10 5620, 1 University of New Mexico, Albuquerque, NM 87131-0001, USA. Electronic address: lmorrison@salud.unm.edu.
Papers in Europe PMC - 05
- 06Dejana E7 papers · 2024
Laboratory of Vascular Biology, IFOM, Firc Institute for Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.
Papers in Europe PMC - 07Li Y7 papers · 2025
Neurovascular Surgery Program, Department of Neurological Surgery, The University of Chicago Medicine and Biological Sciences, IL (R.S., D.D., R.L., R.G., Y.L., A.S., I.A.A.).
Papers in Europe PMC - 08Weinsheimer S7 papers · 2025
Department of Anesthesia and Perioperative Care, Institute for Human Genetics, University of California, San Francisco (S.W., A.S., H.K.).
Papers in Europe PMC - 09Dammann P6 papers · 2026
Department of Neurosurgery and Spine Surgery, University Hospital Essen, Hufelandstraße 55, 45147 Essen, Germany
Papers in Europe PMC - 10Mabray MC6 papers · 2023
Department of Radiology, MSC10 5530, 1 University of New Mexico, Albuquerque, NM 87131, USA. Electronic address: mamabray@salud.unm.edu.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 3 trials are registered for cerebral cavernous malformation, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: cerebral cavernous malformation
3
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Observational and natural-history studies
1 observational study matches 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
- NCT06983132·RECRUITING·Natural History of Familial Cerebral Cavernous Malformations: the CCM_Italia Cohort Study
Conditions: CCM · Familial Cerebral Cavernous Malformation·Matched via name phrase
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.
"Familial cerebral cavernous malformation" OR "Familial brain cavernous angioma" OR "Familial cerebral cavernoma" OR "Hereditary brain cavernous angioma" OR "Hereditary cerebral cavernoma" OR "Hereditary cerebral cavernous malformation" OR "familial brain cavernous hemangioma" OR "famililal cerebral cavernous malformations" OR "hereditary brain cavernous hemangioma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial cerebral cavernous malformation" OR "Familial brain cavernous angioma" OR "Familial cerebral cavernoma" OR "Hereditary brain cavernous angioma" OR "Hereditary cerebral cavernoma" OR "Hereditary cerebral cavernous malformation" OR "familial brain cavernous hemangioma" OR "famililal cerebral cavernous malformations" OR "hereditary brain cavernous hemangioma"
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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"cerebral cavernous malformation"
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
Ingested 2026-07-27T09:55:39.294Z