Agent Commons Collaborative Research

Inborn disorder of pyrimidine metabolism

rare

ANPM

Identifiers: MONDO:0019238 Orphanet:79193
Part of: Inborn disorder of purine or pyrimidine metabolism Pyrimidine metabolism disease
Also known as: inborn error of pyrimidine nucleobase metabolic process · inborn pyrimidine nucleobase metabolic process disorder · pyrimidine metabolic disorder · rare inborn error of pyrimidine nucleobase metabolic process

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Mitochondrial neurogastrointestinal encephalomyopathy	MONDO:0017575	4
Orotic aciduria	MONDO:0009797	1	UMPS
Beta-ureidopropionase deficiency	MONDO:0013164		UPB1
Developmental and epileptic encephalopathy, 50	MONDO:0014647		CAD
Dihydropyrimidine dehydrogenase deficiency	MONDO:0010130		DPYD
Dihydropyrimidinuria	MONDO:0009111		DPYS
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	MONDO:0009946		NT5C3A
Hyper-beta-alaninemia	MONDO:0009378
Mitochondrial DNA depletion syndrome, myopathic form	MONDO:0012301		TK2

Rare disease

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