Synonym(s): - Oroticaciduria - Orotidylic decarboxylase deficiency - Uridine monophosphate synthetase deficiency
Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease Entire classification		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537136
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
UMPS	P11172	613891

- Aminoacid metabolism anomalies / aminoaciduria
- Anaemia
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability

- Abnormal toenails
- Broad nasal root
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Patent ductus arteriosus
- Repeat respiratory infections
- Splenomegaly
- Storage liver disease