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      • 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
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  • Multimers
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    • 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