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ORPHA:319303

Chromophobe renal cell carcinoma

low confidenceDisorder

Also known as: Chromophobe renal cell adenocarcinoma

Publications

4,421

Trials

12

Interventional, condition-specific

Researchers

1,350

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (10)

chromophobe adenocarcinoma · chromophobe carcinoma · chromophobe carcinoma of kidney · chromophobe carcinoma of the kidney · chromophobe cell carcinoma of kidney · chromophobe cell carcinoma of the kidney · chromophobe renal cell adenocarcinoma · chromophobe renal cell cancer · chromophobe renal cell carcinoma · renal cell carcinoma, chromophobe type

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,421 matched papers (2,951 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    12 matched on ClinicalTrials.gov (3 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)

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?

4,421

4,421 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=5449) is 41.

4,421 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).

2,951 in the last 10 years · low confidence

Phrase hits: 4,421 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,350

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
    Henske EP8 papers · 2026

    Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. ehenske@bwh.harvard.edu.

    Papers in Europe PMC
  2. 02
    Wang Y8 papers · 2026

    Department of Pathology, UT Southwestern Medical Center, Dallas, TX 75390, USA; Department of Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA; Peter O'Donnell Jr. Brain Institute, UT Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: yingfei.wang@utsouthwestern.edu.

    Papers in Europe PMC
  3. 03
    Alchoueiry M6 papers · 2026

    Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Hirsch MS6 papers · 2026

    Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  5. 05
    Li X6 papers · 2026

    Department of Pulmonary and Critical Care Medicine, Guangzhou First People's Hospital, The Second Affiliated Hospital, South China University of Technology, Guangzhou, China.

    Papers in Europe PMC
  6. 06
    Finelli A5 papers · 2026

    Division of Urology, Department of Surgery, University of Toronto, Toronto, ON, Canada.

    Papers in Europe PMC
  7. 07
    Han T5 papers · 2026

    Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Liu Y5 papers · 2026

    School of Clinical Medicine, Shandong Second Medical University, Weifang, China.

    Papers in Europe PMC
  9. 09
    Wang J5 papers · 2026

    Department of Medical Ultrasound, West China Hospital of Sichuan University, Chengdu, China.

    Papers in Europe PMC
  10. 10
    Bzeih W4 papers · 2026

    Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 1,157 trials are registered for renal cell carcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

12 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.5th percentile).

low confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: renal cell carcinoma

1,157

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

Observational and natural-history studies

2 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

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 2026-07-26

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.

"Chromophobe renal cell carcinoma" OR "Chromophobe renal cell adenocarcinoma" OR "chromophobe adenocarcinoma" OR "chromophobe carcinoma" OR "chromophobe carcinoma of kidney" OR "chromophobe carcinoma of the kidney" OR "chromophobe cell carcinoma of kidney" OR "chromophobe cell carcinoma of the kidney" OR "chromophobe renal cell cancer" OR "renal cell carcinoma, chromophobe type"

Run this search on Europe PMC

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

"Chromophobe renal cell carcinoma" OR "Chromophobe renal cell adenocarcinoma" OR "chromophobe adenocarcinoma" OR "chromophobe carcinoma" OR "chromophobe carcinoma of kidney" OR "chromophobe carcinoma of the kidney" OR "chromophobe cell carcinoma of kidney" OR "chromophobe cell carcinoma of the kidney" OR "chromophobe renal cell cancer" OR "renal cell carcinoma, chromophobe type"

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: 12 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"renal cell carcinoma"

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
  • Publication count (4421) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:24:58.766Z