Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.
Features include very common findings: Low red blood cell count (anemia) and Aminoaciduria; and common findings: Abnormality of the ureter, Hypertelorism, Posteriorly rotated ears, and Wide nasal bridge and others. 26 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 5 | Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia, Enlarged spleen (splenomegaly) |
Heart and blood vessels | 2 | Ventricular septal defect, Atrial septal defect |
Brain and nerves | 1 | Global developmental delay |
Kidneys and urinary system | 1 | Blood in the urine (hematuria) |
Growth and development | 1 | Failure to thrive |
Digestive system | 1 | Enlarged spleen (splenomegaly) |
Lungs and breathing | 1 | Recurrent respiratory infections |
Arms and legs | 1 | Abnormal toenail morphology |
UMPS function has not been fully characterized.
Orotic aciduria is associated with mutations in the UMPS gene on chromosome 3.
Genetic testing for UMPS is available. Testing is considered confirmatory for diagnosis.
1 FDA-approved treatment is available for orotic aciduria, including URIDINE TRIACETATE (VISTOGARD, approved 2015).
Brand Name | Generic Name | Mechanism | Approved | Market Status |
|---|---|---|---|---|
VISTOGARD | URIDINE TRIACETATE | — | 2015 | Available |
XURIDEN | URIDINE TRIACETATE | — | 2015 | Available |
1 trial found
Phenotype severity distribution: 2 very common features, 10 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
2 publications have been identified in PubMed for orotic aciduria. Research spans Case Report / Case Series (100%).
Starosta RT (2024). [PMID: 39413893](https://pubmed.ncbi.nlm.nih.gov/39413893/). *Mitochondrion*. [Case Report / Case Series]
Nguyen KN (2024). [PMID: 39597062](https://pubmed.ncbi.nlm.nih.gov/39597062/). *Medicina (Kaunas)*. [Case Report / Case Series]
Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center