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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07741 | Adenine phosphoribosyltransferase | |
| P07911 | Uromodulin | |
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P34059 | N-acetylgalactosamine-6-sulfatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000822 | Hypertension |
| HP:0100518 | Dysuria |
| HP:0000083 | Renal insufficiency |
| HP:0011848 | Abdominal colic |
| HP:0000016 | Urinary retention |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0012587 | Macroscopic hematuria |
| HP:0000787 | Nephrolithiasis |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0005110 | Atrial fibrillation |
