ORPHA:422526
Hereditary clear cell renal cell carcinoma
Also known as: Hereditary clear cell renal cell adenocarcinoma
Publications
50
49.1th percentile
Trials
1
Interventional, condition-specific
Researchers
328
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
clear cell renal cell carcinoma (ccRCC) is a renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018492
- UMLS:C1333985
- NCIT:C36260
Additional Mondo synonyms (5)
Hereditary clear cell renal cell cancer · hereditary clear cell renal carcinoma · hereditary clear cell renal cell adenocarcinoma · hereditary clear cell renal cell carcinoma · hereditary conventional (clear cell) renal cell carcinoma
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
50 matched papers (39 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
50
50 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=5449) is 41.
50 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).
39 in the last 10 years · high confidence · 49.1th percentile (publications denominator)
Phrase hits: 50 · MeSH hits: 0
Who's working on it?
328
Distinct author names in 50 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.
- 01Wang J4 papers · 2019
Department of Cell Death and Cancer Genetics, The Hormel Institute, University of Minnesota, Austin, MN, USA.
Papers in Europe PMC - 02Gao Y3 papers · 2022
Department of Nuclear Medicine and Institute of Anesthesiology and Pain, Taihe Hospital, Hubei University of Medicine, Shiyan, China.
Papers in Europe PMC - 03Li Z3 papers · 2022
National Health Commission (NHC) Key Laboratory of Cancer Proteomics, Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 04Liu XS3 papers · 2022
Department of Nuclear Medicine and Institute of Anesthesiology and Pain, Taihe Hospital, Hubei University of Medicine, Shiyan, China.
Papers in Europe PMC - 05Pei ZJ3 papers · 2022
Department of Nuclear Medicine and Institute of Anesthesiology and Pain, Taihe Hospital, Hubei University of Medicine, Shiyan, China.
Papers in Europe PMC - 06Zhou H3 papers · 2022
Department of Nuclear Medicine and Institute of Anesthesiology and Pain, Taihe Hospital, Hubei University of Medicine, Shiyan, China.
Papers in Europe PMC - 07Chen J2 papers · 2020
Lab of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI 49503, USA.
Papers in Europe PMC - 08Chong T2 papers · 2022
Department of Urology, The Second Affiliated Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi Province, China.
Papers in Europe PMC - 09Hao J2 papers · 2021
Cardiovascular Research Institute of Wuhan University, Wuhan, China.
Papers in Europe PMC - 10Kui XY2 papers · 2022
Department of Nuclear Medicine and Institute of Anesthesiology and Pain, Taihe Hospital, Hubei University of Medicine, Shiyan, China.
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.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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.
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 2026-07-26This 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 clear cell renal cell carcinoma" OR "Hereditary clear cell renal cell adenocarcinoma" OR "Hereditary clear cell renal cell cancer" OR "hereditary clear cell renal carcinoma" OR "hereditary conventional (clear cell) renal cell carcinoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary clear cell renal cell carcinoma" OR "Hereditary clear cell renal cell adenocarcinoma" OR "Hereditary clear cell renal cell cancer" OR "hereditary clear cell renal carcinoma" OR "hereditary conventional (clear cell) renal cell carcinoma"
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.
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 2026-07-27T15:50:50.346Z