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ORPHA:252054

Hemangioblastoma

medium confidenceDisorder

Publications

8,879

94th percentile

Trials

9

Interventional, condition-specific

Researchers

1,178

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare benign, highly vascularized tumor characterized by various symptoms depending on the location. They typically occur in the brain (typically cerebellum, in addition to brainstem, cerebrum) and spinal cord, and predominantly affect the central nervous system. However they can also be found in peripheral nerves, bone and soft tissue, liver, lung, pancreas, kidney, intestines, and skin in a lesser extent. They most commonly occur sporadically or in association with von Hippel-Lindau syndrome. Patients having cerebellar tumors often present with headaches, nausea, vomiting, and signs of increased intracranial pressure, whereas patients having brainstem tumors develop motor and sensory deficits, , and potentially fatal hemorrhages. Hemangioblastomas located in spinal cord may result in localized pain, motor weakness, sensory disturbances, and bowel or bladder dysfunction. Patients having optic nerve hemangioblastoma were also reported of either being asymptomatic or manifest vision loss, proptosis, and pain.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

angioblastoma · capillary hemangioblastoma · hemangioblastoma

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

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

    8,879 matched papers (4,297 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Headache; Intracranial cystic lesion; Cerebellar edema) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    9 matched on ClinicalTrials.gov (4 recruiting in sample)

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)

16

Associated phenotypes · MONDO:0016748

  • Headache
  • Intracranial cystic lesion
  • Cerebellar edema
  • Neurogenic bladder
  • Upper limb muscle weakness

Showing 5 of 16 — 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

5

Drugs / clinical candidates · MONDO_0016748

CTD chemicals (MyDisease.info)

3 associated chemicals · 38 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Methotrexate · therapeutic
  • Procarbazine · therapeutic
  • Vincristine · therapeutic

Pathways: HIF-1 signaling pathway; Mitophagy - animal; Autophagy - animal; Th17 cell differentiation; Thyroid hormone signaling pathway; Pathways in cancer; Proteoglycans in cancer; Renal cell carcinoma

MyDisease.info · MONDO:0016748

Literature

Is anyone studying this?

8,879

8,879 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,879 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).

4,297 in the last 10 years · medium confidence · 94th percentile (publications denominator)

Phrase hits: 8,879 · MeSH hits: 188

Open Europe PMC search

Who's working on it?

1,178

Distinct author names in 200 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
    Naseripour M7 papers · 2026

    Eye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  2. 02
    Azimi F6 papers · 2026

    Eye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  3. 03
    Mantziaris G4 papers · 2026

    Department of Neurological Surgery, University of Virginia, Charlottesville, VA, USA.

    Papers in Europe PMC
  4. 04
    Sheehan JP4 papers · 2026

    Department of Neurological Surgery, University of Virginia, Charlottesville, VA, USA. Electronic address: jsheehan@virginia.edu.

    Papers in Europe PMC
  5. 05
    Wei Z4 papers · 2026

    Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

    Papers in Europe PMC
  6. 06
    Xu Z4 papers · 2026

    Department of Neurological Surgery, University of Virginia, Charlottesville, VA, USA.

    Papers in Europe PMC
  7. 07
    Zhang S4 papers · 2026

    Department of Nephrology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.

    Papers in Europe PMC
  8. 08
    Badawi AH3 papers · 2026

    Department of Vitreoretinal and Uveitis Divisions, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.

    Papers in Europe PMC
  9. 09
    Beck J3 papers · 2026

    Department of Neurosurgery, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  10. 10
    Dayawansa S3 papers · 2026

    Department of Neurological Surgery, University of Virginia, Charlottesville, VA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 11 September 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

medium confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 observational studies match 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 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 Hemangioblastoma — 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.

"Hemangioblastoma" OR "angioblastoma" OR "capillary hemangioblastoma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hemangioblastoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hemangioblastoma" OR "angioblastoma" OR "capillary hemangioblastoma"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 9 interventional · 5 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T10:59:17.557Z