Home
Diseases
METABOLISM OF HETEROCYCLIC COMPOUNDS
16 Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.1 Disorders of pyrimidine metabolism
CAD trifunctional protein deficiency
Miller syndrome
Hereditary orotic aciduria
dUTP pyrophosphatase deficiency
Thymidylate synthetase deficiency
Deoxythymidylate kinase deficiency
CTP synthase 1 deficiency
Pyrimidine nucleoside transporter deficiency
Cytosolic pyrimidine 5'-nucleotidase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinase deficiency
Beta-ureidopropionase deficiency
Hyper-beta-aminoisobutyric aciduria
Hyper-beta-alaninemia
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
OnlineIMD
Home
Diseases
METABOLISM OF HETEROCYCLIC COMPOUNDS
16 Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.1 Disorders of pyrimidine metabolism
CAD trifunctional protein deficiency
Miller syndrome
Hereditary orotic aciduria
dUTP pyrophosphatase deficiency
Thymidylate synthetase deficiency
Deoxythymidylate kinase deficiency
CTP synthase 1 deficiency
Pyrimidine nucleoside transporter deficiency
Cytosolic pyrimidine 5'-nucleotidase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinase deficiency
Beta-ureidopropionase deficiency
Hyper-beta-aminoisobutyric aciduria
Hyper-beta-alaninemia
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
CTP synthase 1 deficiency
Synonym(s)
Immunodeficiency type 24
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
CTPS1
/ CTP Synthase 1
1p34.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
CTP synthase 1
Disease group(s)
16.1 Disorders of pyrimidine metabolism