Details of Disease

General Information of Disease (ID: DISUVPQG)

• Disease Name: Orotic aciduria
• Synonyms: orotic aciduria II (formerly); UMP synthtase deficiency; Umps deficiency; OPRT and ODC deficiency; Ump synthase deficiency; UMPS; hereditary orotic aciduria; orotic aciduria without megaloblastic Anemia; orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; oroticaciduria 1; orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency; orotic aciduria without megaloblastic Anaemia; orotate phosphoribosyltransferase and OMP decarboxylase deficiency; uridine monophosphate synthase deficiency; orotic aciduria 1; orotic aciduria type 1; Hereditary Orotic Aciduria; orotidylic decarboxylase deficiency; orotic aciduria; oroticaciduria; uridine monophosphate synthetase deficiency
• 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.
• Disease Hierarchy:
  DIS4IBWA: Vitamin B12- and folate-independent constitutional megaloblastic anemia
  DIS2T2XO: Inborn disorder of pyrimidine metabolism
  DISUVPQG: Orotic aciduria
• Disease Identifiers:
  MONDO ID: MONDO_0009797
  UMLS CUI: C0268128
  MedGen ID: 78642
  HPO ID: HP:0003218
  Orphanet ID: 30
  SNOMED CT ID: 124277009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Uridine triacetate	DM1WYDU	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UMPS	OTM061UK	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
UMPS	TTAFJUD	Strong	Biomarker	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UMPS	DEWJYTE	Definitive	Autosomal recessive	[2]

References

• [1] Uridine triacetate FDA Label
• [2] Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. Am J Hum Genet. 1997 Mar;60(3):525-39.