orotic aciduria
Findings
No curated finding names orotic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009797), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Orotic acid crystalluriaHPOHP:0003526
- Very frequent (80% to 99% of cases)
- OroticaciduriaHPOHP:0003218
- Very frequent (80% to 99% of cases)
- Abnormal T cell physiologyHPOHP:0011840
- Frequent (30% to 79% of cases)
- Abnormal toenail morphology
Show the remaining 5
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UMPSHGNC:12563
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: orotic aciduria
- Also called
- Hereditary Orotic Aciduriaoroticaciduriaorotidylic decarboxylase deficiencyuridine monophosphate synthetase deficiency