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ORPHA:210128

Urocanic aciduria

high confidenceDisorder

Also known as: Encephalopathy due to urocanase deficiency

Publications

11

19.9th percentile

Trials

0

Interventional, condition-specific

Researchers

74

Distinct authors in sample

Gene link

UROC1

Moderate

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent .

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 (3)

encephalopathy due to urocanase deficiency · urocanic aciduria · urocanic aciduria (disease)

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Moderate — UROC1

  2. LiteraturePresent

    11 matched papers (5 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 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?

Probably — there is moderate evidence for UROC1.

GenCC classification: Moderate.

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?

11

11 papers have ever been indexed 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.

11 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).

5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)

Phrase hits: 10 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

74

Distinct author names in 11 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
    Adams JB1 paper · 2015

    School for Engineering of Matter, Transport and Energy, Arizona State University, Tempe, AZ, USA.

    Papers in Europe PMC
  2. 02
    Amelio I1 paper · 2023

    Division for Systems Toxicology, Department of Biology, University of Konstanz, 78464 Konstanz, Germany.

    Papers in Europe PMC
  3. 03
    Arakawa T1 paper · 1971
    Papers in Europe PMC
  4. 04
    Artuch R1 paper · 2009
    Papers in Europe PMC
  5. 05
    Ban SA1 paper · 2016

    CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

    Papers in Europe PMC
  6. 06
    Banerjee PP1 paper · 2016

    Center for Human Immunobiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.

    Papers in Europe PMC
  7. 07
    Bennett KL1 paper · 2016

    CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

    Papers in Europe PMC
  8. 08
    Bilic I1 paper · 2016

    CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

    Papers in Europe PMC
  9. 09
    Boztug K1 paper · 2016

    CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

    Papers in Europe PMC
  10. 10
    Brosnan JT1 paper · 2020

    Department of Biochemistry, Memorial University of Newfoundland, St John's, Newfoundland, Canada.

    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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

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.

"Urocanic aciduria" OR "Encephalopathy due to urocanase deficiency" OR "urocanic aciduria (disease)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Urocanase deficiency

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

"Urocanic aciduria" OR "Encephalopathy due to urocanase deficiency" OR "urocanic aciduria (disease)" OR "Urocanase deficiency" OR "UROC1"

Recall-expansion terms: UROC1

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-27T09:29:14.769Z