inborn disorder of purine metabolism

Findings

No curated finding names inborn disorder of purine metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Where it sits

A kind of

• inborn disorder of purine or pyrimidine metabolism
• purine metabolism disease

Narrower terms (16)

• adenine phosphoribosyltransferase deficiency
• adenosine monophosphate deaminase deficiency
• adenylosuccinate lyase deficiency
• AICA-ribosiduria
• Charcot-Marie-Tooth disease X-linked recessive 5
• developmental and epileptic encephalopathy, 35
• familial juvenile hyperuricemic nephropathy type 1
• hemolytic anemia due to erythrocyte adenosine deaminase overproduction
• hereditary xanthinuria
• hypoxanthine-guanine phosphoribosyltransferase deficiency
• mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
• PAICS deficiency
• phosphoribosylpyrophosphate synthetase superactivity
• purine nucleoside phosphorylase deficiency
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
• X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

Resolves to: inborn disorder of purine metabolism

Also called

inborn error of purine nucleobase metabolic processinborn purine nucleobase metabolic process disorderrare inborn error of purine nucleobase metabolic process