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
Hypoxanthine-guanine phosphoribosyltransferase deficiency 3
Hereditary xanthinuria 2
Phosphoribosylpyrophosphate synthetase superactivity 2
AICA-ribosiduria
Charcot-Marie-Tooth disease X-linked recessive 5
PAICS deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Adenine phosphoribosyltransferase deficiency
Adenosine monophosphate deaminase deficiency
Adenylosuccinate lyase deficiency
Developmental and epileptic encephalopathy, 35
Familial juvenile hyperuricemic nephropathy type 1
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Purine nucleoside phosphorylase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Rare disease

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