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ORPHA:212

Cystathioninuria

medium confidenceDisorder

Also known as: Cystathionase deficiency · Cystathionine gamma-lyase deficiency syndrome · Gamma-cystathionase deficiency

Publications

313

54.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,025

Distinct authors in sample

Gene link

CTH

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is .

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

cystathionase deficiency · cystathioninuria · cystathioninuria (disease) · gamma-cystathionase deficiency

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — CTH

  2. LiteraturePresent

    313 matched papers (83 in last 10 years) Source

  3. Phenotype characterisedPresent

    9 HPO annotations (e.g. Cystathioninuria; Intellectual disability; Seizure) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (CTH).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

9

Associated phenotypes · MONDO:0009058

  • Cystathioninuria
  • Intellectual disability
  • Seizure
  • Cystathioninemia

Showing 4 of 9 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

1 associated chemical · 13 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • N-acetyl-S-(3-oxo-3-carboxy-n-propyl)cysteine · marker/mechanism

Pathways: Glycine, serine and threonine metabolism; Cysteine and methionine metabolism; Selenocompound metabolism; Metabolic pathways; Biosynthesis of amino acids; Cysteine biosynthesis, homocysteine + serine => cysteine; Metabolism; Degradation of cysteine and homocysteine

MyDisease.info · MONDO:0009058

Literature

Is anyone studying this?

313

313 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=3967) is 59.

313 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).

83 in the last 10 years · medium confidence · 54.8th percentile (publications denominator)

Phrase hits: 288 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,025

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Kodama H19 papers · 2005

    Department of Chemistry, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi, 783-8505, Japan.

    Papers in Europe PMC
  2. 02
    Zhang J12 papers · 2000

    Department of Chemistry, Kochi Medical School, Japan.

    Papers in Europe PMC
  3. 03
    Sugahara K11 papers · 2000

    Department of Chemistry, Kochi Medical School, Japan.

    Papers in Europe PMC
  4. 04
    Endres W6 papers · 1983
    Papers in Europe PMC
  5. 05
    Frimpter GW6 papers · 1976
    Papers in Europe PMC
  6. 06
    Ishii I6 papers · 2022

    Department of Biochemistry, Graduate School of Pharmaceutical Sciences, Keio University, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Masuoka N6 papers · 2005
    Papers in Europe PMC
  8. 08
    Akahoshi N5 papers · 2022

    Department of Health Chemistry, Showa Pharmaceutical University, Machida, Tokyo 194-8543, Japan.

    Papers in Europe PMC
  9. 09
    Allen RH5 papers · 2017

    Department of Medicine, University of Colorado School of Medicine, Aurora, CO 80045, USA.

    Papers in Europe PMC
  10. 10
    Banerjee R5 papers · 2019

    Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan 48109 and. Electronic address: rbanerje@umich.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Cystathioninuria — 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.

("Cystathioninuria" OR "Cystathionase deficiency" OR "Cystathionine gamma-lyase deficiency syndrome" OR "Gamma-cystathionase deficiency" OR "cystathioninuria (disease)") OR ("CTH syndrome" OR "CTH-related")

Run this search on Europe PMC

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

"Cystathioninuria" OR "Cystathionase deficiency" OR "Cystathionine gamma-lyase deficiency syndrome" OR "Gamma-cystathionase deficiency" OR "cystathioninuria (disease)"

Study-type breakdown: 0 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:55:08.142Z