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ORPHA:47044

Hereditary papillary renal cell carcinoma

medium confidenceDisorder

Also known as: HPRC

Publications

780

80.9th percentile

Trials

1

Interventional, condition-specific

Researchers

1,184

Distinct authors in sample

Gene link

MET

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors).

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 renal papillary carcinoma · hereditary kidney papillary carcinoma · hereditary papillary carcinoma of kidney · hereditary papillary carcinoma of the kidney · hereditary papillary renal carcinoma · hereditary papillary renal cell cancer · hereditary papillary renal cell carcinoma · renal cell carcinoma, papillary · renal cell carcinoma, papillary, 1, familial and somatic

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 identifiedPresent

    Definitive — MET

  2. LiteraturePresent

    780 matched papers (403 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Papillary renal cell carcinoma) 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

    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?

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

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

1

Associated phenotypes · MONDO:0003789

  • Papillary renal cell carcinoma

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?

780

780 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.

780 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).

403 in the last 10 years · medium confidence · 80.9th percentile (publications denominator)

Phrase hits: 780 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,184

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
    Linehan WM28 papers · 2026

    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA. wml@nih.gov

    Papers in Europe PMC
  2. 02
    Ball MW14 papers · 2026

    National Cancer Institute, Bethesda, MD. Electronic address: mark.ball@nih.gov.

    Papers in Europe PMC
  3. 03
    Srinivasan R11 papers · 2022

    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA. ramasrin@mail.nih.gov.

    Papers in Europe PMC
  4. 04
    Ricketts CJ7 papers · 2022

    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  5. 05
    Gurram S6 papers · 2026

    National Cancer Institute, Bethesda, MD.

    Papers in Europe PMC
  6. 06
    Loebach L6 papers · 2026

    Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Merino MJ6 papers · 2022

    Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States of America.

    Papers in Europe PMC
  8. 08
    Metwalli AR6 papers · 2024

    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD.

    Papers in Europe PMC
  9. 09
    Richard S6 papers · 2022

    Ecole Pratique des Hautes Etudes, Paris and French National Institute of Health and Medical Research U753, Gustave Roussy Cancer Campus, Villejuif, France Faculty of Medicine, Paris-Sud University, Kremlin Bicêtre, Paris, France.

    Papers in Europe PMC
  10. 10
    Rouleau E6 papers · 2025

    Service de Génétique, Institut Gustave Roussy, Villejuif, France.

    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. 33 trials are registered for papillary renal cell carcinoma, 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).

medium 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: papillary renal cell carcinoma

33

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.

Recruiting under the broader category

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 2026-07-29

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 (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 Hereditary papillary renal cell carcinoma — 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.

"Hereditary papillary renal cell carcinoma" OR "familial renal papillary carcinoma" OR "hereditary kidney papillary carcinoma" OR "hereditary papillary carcinoma of kidney" OR "hereditary papillary carcinoma of the kidney" OR "hereditary papillary renal carcinoma" OR "hereditary papillary renal cell cancer" OR "renal cell carcinoma, papillary" OR "renal cell carcinoma, papillary, 1, familial and somatic"

Run this search on Europe PMC

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

"Hereditary papillary renal cell carcinoma" OR "familial renal papillary carcinoma" OR "hereditary kidney papillary carcinoma" OR "hereditary papillary carcinoma of kidney" OR "hereditary papillary carcinoma of the kidney" OR "hereditary papillary renal carcinoma" OR "hereditary papillary renal cell cancer" OR "renal cell carcinoma, papillary" OR "renal cell carcinoma, papillary, 1, familial and somatic"

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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"papillary renal cell carcinoma"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HPRC

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 2026-07-27T00:12:27.760Z