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ORPHA:892

Von Hippel-Lindau disease

medium confidenceDisorder

Also known as: Familial cerebelloretinal angiomatosis · Lindau disease · VHL · Von Hippel-Lindau syndrome

Publications

8,537

93.4th percentile

Trials

28

Interventional, condition-specific

Researchers

1,208

Distinct authors in sample

Gene link

VHL

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

VHL-related von Hippel-Lindau disease · Von Hippel-Lindau syndrome (VHL) · cerebroretinal angiomatosis · familial cerebelloretinal angiomatosis · von Hippel-Lindau disease · von Hippel-Lindau syndrome · von Hippel-Lindau syndrome, modifier of

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — VHL

  2. LiteraturePresent

    8,537 matched papers (3,751 in last 10 years) Source

  3. Phenotype characterisedPresent

    59 HPO annotations (e.g. Adrenal pheochromocytoma; Cerebellar hemangioblastoma; Retinal capillary hemangioma) Source

  4. Animal modelPresent

    23 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. 3-(((1S,2S,3R)-2,3-difluoro-1-hydroxy-7-(methylsulfonyl)-2,3-dihydro-1H-inden-4-yl)oxy)-5-fluorobenzonitrile Source

  6. Interventional trialPresent

    28 matched on ClinicalTrials.gov (8 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?

Yes — we know a specific gene responsible (VHL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

59

Associated phenotypes · MONDO:0008667

  • Adrenal pheochromocytoma
  • Cerebellar hemangioblastoma
  • Retinal capillary hemangioma
  • Elevated urinary catecholamine level
  • Visual loss

Showing 5 of 59 — open Monarch for the full list.

Animal models (Monarch / Alliance)

23

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA 3-(((1S,2S,3R)-2,3-difluoro-1-hydroxy-7-(methylsulfonyl)-2,3-dihydro-1H-inden-4-yl)oxy)-5-fluorobenzonitrilevon Hippel-Lindau Disease · 2020-06-24 · Not FDA Approved for Orphan Indication
  • EMA propranolol hydrochlorideTreatment of von Hippel-Lindau disease · 27/02/2017 · PositiveEMA designation
  • EMA 3-(((1S,2S,3R)-2,3-difluoro-1-hydroxy-7-(methylsulfonyl)-2,3-dihydro-1H-inden-4-yl)oxy)-5-fluorobenzonitrileTreatment of von Hippel-Lindau disease · 21/08/2020 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

11

Drugs / clinical candidates · MONDO_0008667

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,537

8,537 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.

8,537 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).

3,751 in the last 10 years · medium confidence · 93.4th percentile (publications denominator)

Phrase hits: 8,537 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,208

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
    Srinivasan R5 papers · 2026

    Urologic Oncology Branch, National Cancer Institute, Bethesda, MD, United States.

    Papers in Europe PMC
  2. 02
    Jonasch E4 papers · 2026

    The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA. ejonasch@mdanderson.org.

    Papers in Europe PMC
  3. 03
    Linehan WM4 papers · 2026

    Urologic Oncology Branch, National Cancer Institute, Bethesda, MD, United States.

    Papers in Europe PMC
  4. 04
    Capitanio U3 papers · 2026

    Comprehensive Cancer Center/Unit of Urology; URI; IRCCS Ospedale San Raffaele, Milan, Italy. capitanio.umberto@hsr.it.

    Papers in Europe PMC
  5. 05
    Iliopoulos O3 papers · 2025

    Division of Hematology-Oncology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, United States.

    Papers in Europe PMC
  6. 06
    Larcher A3 papers · 2026

    Comprehensive Cancer Center/Unit of Urology; URI; IRCCS Ospedale San Raffaele, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Li L3 papers · 2026

    Special Key Laboratory of Ocular Diseases of Guizhou Province, Zunyi Medical University, Zunyi, 563000, China.

    Papers in Europe PMC
  8. 08
    Li Y3 papers · 2026

    Department of Nephrology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China. lyha01051@btch.edu.cn.

    Papers in Europe PMC
  9. 09
    Liu Y3 papers · 2026

    Clinical Research, Merck & Co., Inc, Rahway, NJ, United States.

    Papers in Europe PMC
  10. 10
    Sundaram M3 papers · 2026

    Merck & Co., Inc., Rahway, NJ, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

28

interventional trials for this specific condition

28 interventional trials matched this specific condition name; 8 currently recruiting in our sample.

Data as of 11 September 2026

28 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.8th percentile).

medium confidence · 95.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

21 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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-29

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 (5)

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 Von Hippel-Lindau disease — 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.

"Von Hippel-Lindau disease" OR "Familial cerebelloretinal angiomatosis" OR "Lindau disease" OR "Von Hippel-Lindau syndrome" OR "VHL-related von Hippel-Lindau disease" OR "Von Hippel-Lindau syndrome (VHL)" OR "cerebroretinal angiomatosis" OR "von Hippel-Lindau syndrome, modifier of"

Run this search on Europe PMC

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

"Von Hippel-Lindau disease" OR "Familial cerebelloretinal angiomatosis" OR "Lindau disease" OR "Von Hippel-Lindau syndrome" OR "VHL-related von Hippel-Lindau disease" OR "Von Hippel-Lindau syndrome (VHL)" OR "cerebroretinal angiomatosis" OR "von Hippel-Lindau syndrome, modifier of"

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: 28 interventional · 21 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

Synonyms dropped by stoplist: VHL

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 2026-07-26T15:47:49.835Z