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ORPHA:319319

Renal medullary carcinoma

low confidenceDisorder

Publications

1,519

Trials

17

Interventional, condition-specific

Researchers

1,380

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.

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 (5)

Renal Medullary Carcinoma · carcinoma of renal medulla · kidney medullary carcinoma · renal medulla carcinoma · renal medullary 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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,519 matched papers (983 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

    17 matched on ClinicalTrials.gov (5 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?

1,519

1,519 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.

1,519 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).

983 in the last 10 years · low confidence

Phrase hits: 1,519 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,380

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
    Msaouel P29 papers · 2026

    Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77025.

    Papers in Europe PMC
  2. 02
    Tannir NM25 papers · 2026

    Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77025.

    Papers in Europe PMC
  3. 03
    Genovese G13 papers · 2026

    Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77025.

    Papers in Europe PMC
  4. 04
    Rao P12 papers · 2026

    Department of Pathology, Division of Pathology and Laboratory Medicine, University of Texas MD Anderson Cancer Center, Houston, TX.

    Papers in Europe PMC
  5. 05
    Sheth RA8 papers · 2026

    Department of Interventional Radiology, University of Texas MD Anderson Cancer Center, Houston, Texas.

    Papers in Europe PMC
  6. 06
    Gao J7 papers · 2026

    Department of Genitourinary Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas.

    Papers in Europe PMC
  7. 07
    Karam JA7 papers · 2026

    Department of Urology, Division of Surgery, University of Texas MD Anderson Cancer Center, Houston, TX; Department of Translational Molecular Pathology, Division of Pathology and Laboratory Medicine, University of Texas MD Anderson Cancer Center, Houston, TX.

    Papers in Europe PMC
  8. 08
    Karki M6 papers · 2026

    Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

    Papers in Europe PMC
  9. 09
    Walker CL6 papers · 2025

    Center for Precision Environmental Health, Baylor College of Medicine, Houston, TX 77030.

    Papers in Europe PMC
  10. 10
    Daw NC5 papers · 2026

    Department of Pediatrics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

17

interventional trials for this specific condition

17 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 27 July 2026

17 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.9th percentile).

low confidence · 93.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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.

"Renal medullary carcinoma" OR "carcinoma of renal medulla" OR "carcinoma of the renal medulla" OR "kidney medullary carcinoma" OR "renal medulla carcinoma"

Run this search on Europe PMC

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

"Renal medullary carcinoma" OR "carcinoma of renal medulla" OR "carcinoma of the renal medulla" OR "kidney medullary carcinoma" OR "renal medulla 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: 17 interventional · 1 observational · 2 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
  • Publication count (1519) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:25:23.272Z