ORPHA:30
Hereditary orotic aciduria
Also known as: Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
567
Trials
1
Interventional, condition-specific
Researchers
1,191
Distinct authors in sample
Gene link
UMPS
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global , and , associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as , have also been reported.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009797
- OMIM:258900
- UMLS:C0220987
- NCIT:C98944
Additional Mondo synonyms (5)
Hereditary Orotic Aciduria · orotic aciduria · oroticaciduria · orotidylic decarboxylase deficiency · uridine monophosphate synthetase 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — UMPS
- LiteraturePresent
567 matched papers (172 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 trialPresent
1 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 (UMPS).
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?
567
567 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.
567 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).
172 in the last 10 years · low confidence
Phrase hits: 567 · MeSH hits: 0
Who's working on it?
1,191
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.
- 01Wada Y8 papers · 2000Papers in Europe PMC
- 02Sumi S7 papers · 2000
Department of Pediatrics, Nagoya City Child Welfare Center, Japan.
Papers in Europe PMC - 03Häberle J5 papers · 2024
Division of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Switzerland; Zurich Centre for Integrative Human Physiology (ZIHP) and the Neuroscience Centre Zurich (ZNZ), Zurich, Switzerland.
Papers in Europe PMC - 04Kidouchi K5 papers · 2000Papers in Europe PMC
- 05Suchi M5 papers · 1998
Department of Pediatrics, Nagoya City University Medical School. msuchi@umich.edu
Papers in Europe PMC - 06Togari H4 papers · 2000Papers in Europe PMC
- 07Alexander IE3 papers · 2023
Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, Australia.
Papers in Europe PMC - 08Batshaw ML3 papers · 2017
Center for Genetic Medicine Research, Children's Research Institute, Children's National Health System, 111 Michigan Ave., Washington, DC 20010, USA.
Papers in Europe PMC - 09Bell P3 papers · 2017
Gene Therapy Program, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 125 S. 31st Street, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 10Cunningham SC3 papers · 2023
Gene Therapy Research Unit, Children's Medical Research Institute and The Children's Hospital at Westmead, Wentworthville, New South Wales, Australia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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
1 observational study matches 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
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via name phrase
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.
"Hereditary orotic aciduria" OR "Orotidylic decarboxylase deficiency" OR "Uridine monophosphate synthetase deficiency" OR "orotic aciduria" OR "oroticaciduria"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary orotic aciduria" OR "Orotidylic decarboxylase deficiency" OR "Uridine monophosphate synthetase deficiency" OR "orotic aciduria" OR "oroticaciduria" OR "UMPS"
Recall-expansion terms: UMPS
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: 1 interventional · 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (567) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T12:09:13.346Z