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    • METABOLISM OF HETEROCYCLIC COMPOUNDS
      • 16    Disorders of nucleobase, nucleotide and nucleic acid metabolism
        • 16.2    Disorders of purine metabolism
          • PRPS1-related disease
          • Phosphoribosylaminoimidazole carboxylase deficiency
          • Adenylosuccinate lyase deficiency
          • AICAR transformylase/IMP cyclohydrolase deficiency
          • Myoadenylate deaminase deficiency
          • Adenosine monophosphate deaminase 2 deficiency
          • Erythrocyte adenosine monophosphate deaminase 3 deficiency
          • Adenosine kinase deficiency
          • Adenosine deaminase 1 deficiency
          • Adenosine deaminase 2 deficiency
          • Purine nucleoside phosphorylase deficiency
          • FAMIN deficiency
          • Xanthine oxidase deficiency
          • Lesch-Nyhan syndrome
          • Adenine phosphoribosyltransferase deficiency
          • Adenylate kinase 1 deficiency
          • Adenylate kinase 2 deficiency
          • Adenylate kinase 7 deficiency
          • Adenylosuccinate synthase-like 1 deficiency
          • Inosine-5'-monophosphate dehydrogenase deficiency
          • Inosine-5'-monophosphate dehydrogenase type 2 deficiency
          • Thiopurine methyltransferase deficiency
          • NUDT15 deficiency
          • Inosine triphosphatase deficiency
          • Hereditary renal hypouricemia
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  • Home
  • Diseases
    • METABOLISM OF HETEROCYCLIC COMPOUNDS
      • 16    Disorders of nucleobase, nucleotide and nucleic acid metabolism
        • 16.2    Disorders of purine metabolism
          • PRPS1-related disease
          • Phosphoribosylaminoimidazole carboxylase deficiency
          • Adenylosuccinate lyase deficiency
          • AICAR transformylase/IMP cyclohydrolase deficiency
          • Myoadenylate deaminase deficiency
          • Adenosine monophosphate deaminase 2 deficiency
          • Erythrocyte adenosine monophosphate deaminase 3 deficiency
          • Adenosine kinase deficiency
          • Adenosine deaminase 1 deficiency
          • Adenosine deaminase 2 deficiency
          • Purine nucleoside phosphorylase deficiency
          • FAMIN deficiency
          • Xanthine oxidase deficiency
          • Lesch-Nyhan syndrome
          • Adenine phosphoribosyltransferase deficiency
          • Adenylate kinase 1 deficiency
          • Adenylate kinase 2 deficiency
          • Adenylate kinase 7 deficiency
          • Adenylosuccinate synthase-like 1 deficiency
          • Inosine-5'-monophosphate dehydrogenase deficiency
          • Inosine-5'-monophosphate dehydrogenase type 2 deficiency
          • Thiopurine methyltransferase deficiency
          • NUDT15 deficiency
          • Inosine triphosphatase deficiency
          • Hereditary renal hypouricemia
  • Genes
  • Gene products
  • Pathways
  • Multimers
  • More information
    • About Online IMD

Phosphoribosylaminoimidazole carboxylase deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • PAICS / Multifunctional Phosphoribosyl Transferase Domain Containing
      • 4q12
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
  • Disease group(s)
    • 16.2    Disorders of purine metabolism