orotic aciduria

Summary
Definition
A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
Super Class
pyrimidine metabolic disorder
External Links
Disease Ontology
DOID:0050833
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7372 UMPS uridine monophosphate synthetase
Displaying 1 entry
Gene ID Gene Symbol Description Source
22247 Umps uridine monophosphate synthetase
Displaying 1 entry
Gene ID Gene Symbol Description Source
42493 r-l rudimentary-like
Displaying all 2 entries
Gene ID Gene Symbol Description Source
172008 R12E2.11 Orotate phosphoribosyltransferase
176453 umps-1 Orotidine 5'-phosphate decarboxylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
856692 URA3 orotidine-5'-phosphate decarboxylase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P11172 Uridine 5'-monophosphate synthase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 26 in total
HPO ID HPO Term
HP:0003355 Aminoaciduria
HP:0000494 Downslanted palpebral fissures
HP:0005435 Impaired T cell function
HP:0001385 Hip dysplasia
HP:0000368 Low-set, posteriorly rotated ears
HP:0002205 Recurrent respiratory infections
HP:0003267 Reduced orotidine 5-prime phosphate decarboxylase level
HP:0001508 Failure to thrive
HP:0004826 Folate-unresponsive megaloblastic anemia
HP:0000790 Hematuria
Displaying 1 entry
Gene ID Gene Symbol Description
7372 UMPS uridine monophosphate synthetase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024