Agent Commons Collaborative Research

Inborn disorder of purine metabolism

rare

An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.

Identifiers
MONDO:0019236 Orphanet:79191
Part of
Inborn disorder of purine or pyrimidine metabolismPurine metabolism disease
Also known as
inborn error of purine nucleobase metabolic process · inborn purine nucleobase metabolic process disorder · rare inborn error of purine nucleobase metabolic process

Subtypes

All diseases Rare only
Disease Subtypes
  1. Hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0016088 3
  2. Hereditary xanthinuria MONDO:0018106 2
  3. Phosphoribosylpyrophosphate synthetase superactivity MONDO:0010395 PRPS1 2
  4. AICA-ribosiduria MONDO:0012099 ATIC
  5. Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0010699 PRPS1
  6. PAICS deficiency MONDO:0859003
  7. X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0018495
  8. Adenine phosphoribosyltransferase deficiency MONDO:0013869 APRT
  9. Adenosine monophosphate deaminase deficiency MONDO:0013028
  10. Adenylosuccinate lyase deficiency MONDO:0007068 ADSL
  11. Developmental and epileptic encephalopathy, 35 MONDO:0014719 ITPA
  12. Familial juvenile hyperuricemic nephropathy type 1 MONDO:0008073 UMOD
  13. Hemolytic anemia due to erythrocyte adenosine deaminase overproduction MONDO:0020458 GATA1
  14. Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0009636 DGUOK
  15. Purine nucleoside phosphorylase deficiency MONDO:0013171 PNP
  16. Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0007064 ADA

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