ORPHA:2843
Pentosuria
Also known as: Essential pentosuria · Xylitol dehydrogenase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
266
45.2th percentile
Trials
0
Interventional, condition-specific
Researchers
505
Distinct authors in sample
Gene link
DCXR
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009846
- MeSH:C536652
- OMIM:260800
- UMLS:C0268162
Additional Mondo synonyms (3)
essential pentosuria · pentosuria · xylitol dehydrogenase 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.”
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.
- Gene identifiedPresent
Moderate — DCXR
- LiteraturePresent
266 matched papers (32 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 DCXR.
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?
266
266 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=5449) is 41.
266 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).
32 in the last 10 years · medium confidence · 45.2th percentile (publications denominator)
Phrase hits: 266 · MeSH hits: 0
Who's working on it?
505
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.
- 01
- 02Bloomberg BM3 papers · 1989Papers in Europe PMC
- 03Cammidge PJ3 papers · 1933Papers in Europe PMC
- 04HIATT HH3 papers · 1961Papers in Europe PMC
- 05Nebert DW3 papers · 2017
Division of Human Genetics, Department of Pediatrics & Molecular Developmental Biology, Cincinnati, Ohio 45267-0056, USA. dan.nebert@uc.edu
Papers in Europe PMC - 06Scriver CR3 papers · 2008
Department of Human Genetics, McGill University and McGill University Health Centre, Montreal, Que. charles.scriver@mcgill.ca
Papers in Europe PMC - 07TOUSTER O3 papers · 1960Papers in Europe PMC
- 08Ahnn J2 papers · 2022
Department of Life Science and the Research Institute for Natural Sciences, Hanyang University, Seoul, Republic of Korea.
Papers in Europe PMC - 09Arduini A2 papers · 2025
Department of Research and Development, CoreQuest Sagl, Tecnopolo, Bioggio, Switzerland.
Papers in Europe PMC - 10Bonomini M2 papers · 2025
Department of Medicine, Section of Nephrology and Dialysis, G. d'Annunzio University, Chieti-Pescara, Chieti, Italy. mario.bonomini@unich.it.
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.
medium 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 2026-07-26This 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.
"Pentosuria" OR "Essential pentosuria" OR "Xylitol dehydrogenase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pentosuria" OR "Essential pentosuria" OR "Xylitol dehydrogenase deficiency" OR "DCXR"
Recall-expansion terms: DCXR
Study-type breakdown: 0 interventional · 0 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 2026-07-26T21:25:43.959Z