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ORPHA:214

Cystinuria

medium confidenceDisorder

Also known as: Cystinuria-lysinuria syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

4,419

94.4th percentile

Trials

14

Interventional, condition-specific

Researchers

1,123

Distinct authors in sample

Gene link

SLC3A1, SLC7A9

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

cystinuria · cystinuria (disease) · cystinuria-lysinuria syndrome

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SLC3A1, SLC7A9

  2. LiteraturePresent

    4,419 matched papers (1,413 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

    14 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 (SLC3A1, SLC7A9).

GenCC classification: Definitive.

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?

4,419

4,419 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.

4,419 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).

1,413 in the last 10 years · medium confidence · 94.4th percentile (publications denominator)

Phrase hits: 4,419 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,123

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
    Ferraro PM7 papers · 2026

    UOS Terapia Conservativa della Malattia Renale Cronica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. pietromanuel.ferraro@unicatt.it.

    Papers in Europe PMC
  2. 02
    Capolongo G5 papers · 2026

    Department of Translational Medical Science, University of Campania Luigi Vanvitelli, Naples, Italy.

    Papers in Europe PMC
  3. 03
    Hu L5 papers · 2025

    Department of Urology, Pediatric Urolith Center, National Clinical Research Center for Child Health, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, 310000, China.

    Papers in Europe PMC
  4. 04
    Zhao Y5 papers · 2026

    Department of Urology, Hunan Children's Hospital, Changsha, Hunan, China.

    Papers in Europe PMC
  5. 05
    Capasso G4 papers · 2025

    Department of Translational Medical Science, University of Campania Luigi Vanvitelli, Naples, Italy.

    Papers in Europe PMC
  6. 06
    Gambaro G4 papers · 2025

    Division of Nephrology, Department of Medicine, University Hospital of Verona. giovanni.gambaro@univr.it.

    Papers in Europe PMC
  7. 07
    Spasiano A4 papers · 2025

    UOS Terapia Conservativa della Malattia Renale Cronica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

    Papers in Europe PMC
  8. 08
    Artuch R3 papers · 2026

    Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) -CB06/07/0069 - CB06/07/0061 - CB06/07/0073 - CB06/07/1002 - Instituto de Salud Carlos III, Madrid, Spain; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.

    Papers in Europe PMC
  9. 09
    Chi T3 papers · 2024

    Department of Urology, University of California San Francisco, San Francisco, CA.

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

    Faculté de Médecine, Université Paris Cité, F-75006 Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

14 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.1th percentile).

medium confidence · 93.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

14 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.

Observational and natural-history studies

8 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.

"Cystinuria" OR "Cystinuria-lysinuria syndrome" OR "cystinuria (disease)"

Run this search on Europe PMC

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

"Cystinuria" OR "Cystinuria-lysinuria syndrome" OR "cystinuria (disease)" OR "SLC3A1" OR "SLC7A9"

Recall-expansion terms: SLC3A1, SLC7A9

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: 14 interventional · 8 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:55:29.375Z