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ORPHA:221061

Familial cerebral cavernous malformation

high confidenceDisorder

Also known as: Familial brain cavernous angioma · Familial cerebral cavernoma · Hereditary brain cavernous angioma · Hereditary cerebral cavernoma · Hereditary cerebral cavernous malformation

Publications

171

60.3th percentile

Trials

1

Interventional, condition-specific

Researchers

920

Distinct authors in sample

Gene link

—

Readiness

4/6

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).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    171 matched papers (126 in last 10 years) Source

  3. Phenotype characterisedPresent

    48 HPO annotations (e.g. Vestibular schwannoma; Astrocytoma; Adrenal calcification) Source

  4. Animal modelPresent

    7 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

48

Associated phenotypes · MONDO:0031037

  • Vestibular schwannoma
  • Astrocytoma
  • Adrenal calcification
  • Seizure
  • Cerebral hemorrhage

Showing 5 of 48 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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.

  • Heparin · therapeutic

MyDisease.info · MONDO:0031037

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=3967) is 59.

171 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).

126 in the last 10 years · high confidence · 60.3th percentile (publications denominator)

Phrase hits: 171 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Kim 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
  2. 02
    Hart 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
  3. 03
    Nelson 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
  4. 04
    Morrison 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
  5. 05
    Akers A7 papers · 2025

    Angioma Alliance, Durham, NC, USA.

    Papers in Europe PMC
  6. 06
    Dejana E7 papers · 2024

    Laboratory of Vascular Biology, IFOM, Firc Institute for Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Li 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
  8. 08
    Weinsheimer 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
  9. 09
    Dammann P6 papers · 2026

    Department of Neurosurgery and Spine Surgery, University Hospital Essen, Hufelandstraße 55, 45147 Essen, Germany

    Papers in Europe PMC
  10. 10
    Mabray 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 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th 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

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 cerebral cavernous malformation — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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