| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 4 (4.0%) |
26684317 |
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency. Chong SL, Ng YH. World J Pediatr. 2016;12(2):243-5. |
| Nephropathy | ||
| APRT | ||
| Adenine Phosphoribosyltransferase China Homo sapiens Inborn Errors of Metabolism Infant Kidney Calculi Male Severity of Illness Index Urolithiasis | ||
| 4 (4.0%) |
26278213 |
[A Case Report of 2,8-Dihydroxyadenine Stone]. Yamaguchi S, Haba T, Koike H. Hinyokika Kiyo. 2015;61(7):279-83. |
| Flank pain | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Females Homo sapiens Inborn Errors of Metabolism Infrared Spectrophotometry Middle Aged Ureteral Calculi Urolithiasis X-Ray Computed Tomography | ||
| 4 (4.0%) |
24459232 |
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. Kaartinen K, Hemmila U, Salmela K, Raisanen-Sokolowski A, Kouri T, Makela S. J Am Soc Nephrol. 2014;25(4):671-4. |
| Nephropathy | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Homo sapiens Inborn Errors of Metabolism Kidney Calculi Kidney Transplantation Male Middle Aged Urolithiasis | ||
| 4 (4.0%) |
22089152 |
[A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency]. Nakanishi S, Saito R, Mizuno K, Matsuoka T, Kita Y, Asai S, Taoka R, Soda T, Inoue K, Terai A. Hinyokika Kiyo. 2011;57(10):551-4. |
| Fever | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Females Homo sapiens Infant Kidney Calculi Lithotripsy | ||
| 4 (4.0%) |
21635362 |
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A. Acta Paediatr. 2011;100(12):e285-8. |
| Recurrent urinary tract infections | ||
| APRT | ||
| p|SUB|L|33|P p|SUB|M|136|T;RS#:28999113 | ||
| Adenine Phosphoribosyltransferase Asians Child, Preschool Homo sapiens Inborn Errors of Metabolism Lithotripsy Male Mutation Nephritis, Interstitial Nephrolithiasis Urolithiasis | ||
| 4 (4.0%) |
21304254 |
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan]. Ikeda H, Watanabe T, Fujimoto Y, Yamamoto S, Hosaki I, Isoyama K, Kawano S, Chiba M. Hinyokika Kiyo. 2011;57(1):15-9. |
| Renal insufficiency | ||
| APRT | ||
| p|SUB|M|136|T;RS#:28999113 p|SUB|M|1|V | ||
| Adenine Phosphoribosyltransferase Child, Preschool Electrophoresis, Agar Gel Females Homo sapiens Inborn Errors of Metabolism Mutation Sequence Analysis, DNA Urolithiasis | ||
| 4 (4.0%) |
20303634 |
Decreased kidney function and crystal deposition in the tubules after kidney transplant. Stratta P, Fogazzi GB, Canavese C, Airoldi A, Fenoglio R, Bozzola C, Ceballos-Picot I, Bollee G, Daudon M. Am J Kidney Dis. 2010;56(3):585-90. |
| Nephrolithiasis | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Crystallization Females Homo sapiens Inborn Errors of Metabolism Kidney Transplantation Postoperative Complications | ||
| 4 (4.0%) |
20101413 |
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S. Pediatr Nephrol. 2010;25(6):1173-6. |
| Crystalluria | ||
| Adenine Phosphoribosyltransferase Child, Preschool Females Heterozygote Homo sapiens Infant Kidney Failure, Chronic Male Mutation | ||
| 4 (4.0%) |
15077874 |
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. Eller P, Rosenkranz AR, Mark W, Theurl I, Laufer J, Lhotta K. Clin Nephrol. 2004;61(3):217-21. |
| Nephropathy | ||
| Adenine Phosphoribosyltransferase Adult Cadaver Graft Rejection Homo sapiens Kidney Failure, Chronic Kidney Transplantation Male Postoperative Complications Renal Dialysis Urinary Calculi | ||
| 4 (4.0%) |
14518391 |
[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]. Shiba M, Shimizu K, Takatera H. Hinyokika Kiyo. 2003;49(8):497-9. |
| Shock | ||
| Adenine Phosphoribosyltransferase Adult Females Homo sapiens Kidney Calculi Ureteral 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 |