| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 4 (4.0%) |
2698287 |
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]. Coupris L, Champion G, Duverne C, Varlet F, Ratajczak A. Chir Pediatr. 1989;30(6):253-8. |
| Confusion | ||
| APRT | ||
| Child Differential Diagnosis Homo sapiens Inborn Errors of Metabolism Infant Kidney Calculi Male Spectrophotometry Ultrasonography | ||
| 4 (4.0%) |
2642113 |
Purine enzyme defects as a cause of acute renal failure in childhood. Simmonds HA, Cameron JS, Barratt TM, Dillon MJ, Meadow SR, Trompeter RS. Pediatr Nephrol. 1989;3(4):433-7. |
| Confusion | ||
| HPRT1 | ||
| Adenine Phosphoribosyltransferase Child Child, Preschool Females Homo sapiens Hypoxanthine Phosphoribosyltransferase Infant Male Purine-Pyrimidine Metabolism, Inborn Errors | ||
| 4 (4.0%) |
2387000 |
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]. Coupris L, Champion G, Duverne C, Varlet F, Ratajczak A. Chir Pediatr. 1990;31(1):26-31. |
| Confusion | ||
| Adenine Phosphoribosyltransferase Amino Acid Metabolism, Inborn Errors Child Homo sapiens Infant Lithotripsy Male Urinary Calculi | ||
| 4 (4.0%) |
2255060 |
[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. Mita M, Midorikawa J, Kokubun K, Uchida T. Rinsho Ketsueki. 1990;31(10):1701-5. |
| Pancytopenia | ||
| APRT FANCB | ||
| Adenine Phosphoribosyltransferase Homo sapiens Male | ||
| 4 (4.0%) |
2091814 |
Nephrolithiasis in twins with APRT-deficiency. Stones as a marker of an inborn error of metabolism. Zollner N, Gresser U. Bildgebung. 1990;57(3-4):64-6. |
| Nephrolithiasis | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Diseases in Twins Homo sapiens Kidney Kidney Calculi Male Ultrasonography | ||
| 4 (4.0%) |
1609669 |
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report. Katsuoka Y, Miyakita H, Shiramizu M, Iwagaki H, Ikeda T. Hinyokika Kiyo. 1992;38(5):573-7. |
| Renal insufficiency | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Child Genotype Homo sapiens Male Urinary Calculi | ||
| 4 (4.0%) |
1516930 |
Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis. Gelb AB, Fye KH, Tischfield JA, Sahota AS, Sparks JW, Hancock DC, Sibley RK. Hum Pathol. 1992;23(9):1081-5. |
| Renal insufficiency | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Crystallization Electron Microscopy Electron Probe Microanalysis Homo sapiens Kidney Kidney Failure, Chronic Male Middle Aged Urinary Calculi | ||
| 4 (4.0%) |
865583 |
Complete deficiency of adenine phosphoribosyltransferase. Report of a family. Van Acker KJ, Simmonds HA, Potter C, Cameron JS. N Engl J Med. 1977;297(3):127-32. |
| Hyperuricemia | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Child Child, Preschool Crystallization Females Heterozygote Homo sapiens Homozygote Infant Male Purine-Pyrimidine Metabolism, Inborn Errors Purines Urinary Calculi |
Total: 6
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000787 | Nephrolithiasis | Very frequent (99-80%) |
| HP:0000083 | Renal insufficiency | Frequent (79-30%) |
| HP:0000790 | Hematuria | Frequent (79-30%) |
| HP:0000010 | Recurrent urinary tract infections | Occasional (29-5%) |
| HP:0003774 | Stage 5 chronic kidney disease | Occasional (29-5%) |
| HP:0100518 | Dysuria | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000112 | Nephropathy | 5 |
| HP:0000787 | Nephrolithiasis | 5 |
| HP:0000083 | Renal insufficiency | 2 |
| HP:0020074 | Crystalluria | 2 |
| HP:0000123 | Nephritis | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001919 | Acute kidney injury | 1 |