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adenine phosphoribosyltransferase deficiency
Summary
- Synonym
-
- 2,8-dihydroxyadenine urolithiasis
- APRT deficiency
- Definition
- A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
- Super Class
- autosomal recessive disease purine-pyrimidine metabolic disorder
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000019 | Urinary hesitancy |
| HP:0012622 | Chronic kidney disease |
| HP:0000791 | Uric acid nephrolithiasis |
| HP:0100520 | Oliguria |
| HP:0001919 | Acute kidney injury |
| HP:0000093 | Proteinuria |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0000790 | Hematuria |
| HP:0003621 | Juvenile onset |
| HP:0002027 | Abdominal pain |
