adenine phosphoribosyltransferase deficiency
Findings
No curated finding names adenine phosphoribosyltransferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Definition from the Mondo Disease Ontology (MONDO:0013869), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 2,8-dihydroxyadenine crystalluriaHPOHP:0034279
- 1 of 1 reported patient
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- Elevated circulating creatinine concentrationHPOHP:0003259
- 1 of 1 reported patient
- HematuriaHPOHP:0000790
- 2 of 2 reported patients
- Kidney stoneHPOHP:0000787
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Metabolic acidosisHPOHP:0001942
- 1 of 1 reported patient
- Oliguria
Show the remaining 13
- DysuriaHPOHP:0100518
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- ProteinuriaHPOHP:0000093
- Frequent (30% to 79% of cases)
- Abdominal colicHPOHP:0011848
- Occasional (5% to 29% of cases)
- Atrial fibrillationHPOHP:0005110
- Occasional (5% to 29% of cases)
- Flank painHPOHP:0030157
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- APRTHGNC:626
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: adenine phosphoribosyltransferase deficiency
- Also called
- 2,8-dihydroxyadenine urolithiasis2,8-dihydroxyadeninuria diseaseAPRT deficiency