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ORPHA:214

Cystinuria

medium confidenceDisorder

Also known as: Cystinuria-lysinuria syndrome

Publications

5,698

91.1th percentile

Trials

14

Interventional, condition-specific

Researchers

1,228

Distinct authors in sample

Gene link

SLC3A1, SLC7A9

Definitive

Readiness

6/6

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.”

6/6 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

    5,698 matched papers (2,390 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Argininuria; Recurrent urinary tract infections; Cystinuria) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    3 FDA · 3 EMA designations (2 FDA orphan-indication approvals) — e.g. bucillamine Source

  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)

22

Associated phenotypes · MONDO:0009067

  • Argininuria
  • Recurrent urinary tract infections
  • Cystinuria
  • Kidney stone
  • Ornithinuria

Showing 5 of 22 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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)

6

Designations · 2 with FDA orphan-indication approval

  • FDA bucillamineCystinuria · 2015-10-22 · Not FDA Approved for Orphan Indication
  • FDA SuccimerCystinuria KIDNEY STONE · 1990-11-05 · Not FDA Approved for Orphan Indication
  • EMA L-cystine bis(N-methylpiperazide)Treatment of cystinuria · 27/06/2018 · PositiveEMA designation
  • EMA L-ergothioneineTreatment of cystinuria · 21/06/2021 · PositiveEMA designation
  • EMA tripotassium citrate monohydrate;potassium hydrogen carbonateTreatment of cystinuria · 09/01/2020 · PositiveEMA designation
  • FDA Tiopronin (Thiola)Cystinuria Nephrolithiasis · 1986-01-17

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

5

Drugs / clinical candidates · MONDO_0009067

CTD chemicals (MyDisease.info)

3 associated chemicals · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • N-acetylpenicillamine · therapeutic
  • Penicillamine · therapeutic
  • Tiopronin · therapeutic

Pathways: Protein digestion and absorption; Hemostasis; Cell surface interactions at the vascular wall; Basigin interactions; Amino acid transport across the plasma membrane; Transmembrane transport of small molecules; Transport of inorganic cations/anions and amino acids/oligopeptides; SLC-mediated transmembrane transport

MyDisease.info · MONDO:0009067

Literature

Is anyone studying this?

5,698

5,698 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,698 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).

2,390 in the last 10 years · medium confidence · 91.1th percentile (publications denominator)

Phrase hits: 4,419 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,228

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
    Li Y8 papers · 2026

    Department of Neurosurgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, P.R. China. ly658872@csu.edu.cn.

    Papers in Europe PMC
  2. 02
    Hu L6 papers · 2025

    Department of Medicinal Chemistry, Ernest Mario School of Pharmacy, Rutgers University, Piscataway, NJ, 08854, USA.

    Papers in Europe PMC
  3. 03
    Li J6 papers · 2025

    Department of Urology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

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

    State Key Laboratory of Animal Nutrition and Feeding, Key Laboratory of Animal Nutrition and Feed Science of the Ministry of Agriculture and Rural Affairs, Institute of Animal Science Chinese Academy of Agricultural Sciences Beijing China.

    Papers in Europe PMC
  5. 05
    Ferraro PM5 papers · 2026

    Section of Nephrology, Department of Medicine, Università degli Studi di Verona, Piazzale L.A. Scuro 10, 37134 Verona, Italy.

    Papers in Europe PMC
  6. 06
    Goldfarb DS5 papers · 2025

    NYU Langone Health, New York, New York, USA.

    Papers in Europe PMC
  7. 07
    Sakamoto S5 papers · 2025

    Department of Urology, Graduate School of Medicine, Chiba University, Chiba, Japan.

    Papers in Europe PMC
  8. 08
    Sayer JA5 papers · 2026

    ESEUT European Association of Urology Endourology Section.

    Papers in Europe PMC
  9. 09
    Thomas K5 papers · 2022

    Stone Unit, Guy's and St Thomas' NHS Foundation Trust, London, and King's College, London, United Kingdom.

    Papers in Europe PMC
  10. 10
    Wang Y5 papers · 2026

    College of Animal Science and Technology, Northeast Agricultural University, Harbin 150030, China.

    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 11 September 2026 · last trial check 28 July 2026

14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).

medium confidence · 93.7th 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Cystinuria — 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.

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

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)"

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: ok — strategies attempted: phrase; 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