| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.2%) |
7815752 |
[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]. Konishi N, Takeshita K, Yasui H. Nihon Jinzo Gakkai Shi. 1994;36(10):1191-5. |
| Renal insufficiency Pseudoarthrosis | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Adult Crystallization Homo sapiens Homozygote Kidney Diseases Male Urinary Calculi | ||
| 2 (21.2%) |
1061547 |
Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease. Emmerson BT, Gordon RB, Thompson L. Aust N Z J Med. 1975;5(5):440-6. |
| Arthritis | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Adult Child Child, Preschool Erythrocytes Females Gout Homo sapiens Hypoxanthine Phosphoribosyltransferase Kidney Diseases Kinetics Male Mutation | ||
| 3 (17.5%) |
20064951 |
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nasr SH, Sethi S, Cornell LD, Milliner DS, Boelkins M, Broviac J, Fidler ME. Nephrol Dial Transplant. 2010;25(6):1909-15. |
| Nephropathy Scarring | ||
| Adenine Phosphoribosyltransferase Adult Crystallization Differential Diagnosis Females Genes, Recessive Homo sapiens Kidney Kidney Diseases Kidney Failure, Chronic Kidney Transplantation Male Middle Aged Primary Hyperoxaluria United States Urinary Calculi | ||
| 4 (4.0%) |
31249241 |
Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease. Parikh MD, Konnur A, Gang S. Saudi J Kidney Dis Transpl. 2019;30(3):723-725. |
| Acute kidney injury | ||
| Adenine Phosphoribosyltransferase Crystallization Enzyme Inhibitors Females Homo sapiens Inborn Errors of Metabolism Infant Kidney Calculi Urolithiasis Xanthine Oxidase | ||
| 4 (4.0%) |
30355577 |
APRT deficiency: the need for early diagnosis. Huq A, Nand K, Juneja R, Winship I. BMJ Case Rep. 2018;2018:. |
| Nephropathy | ||
| APRT XDH | ||
| Adenine Phosphoribosyltransferase Early Diagnosis Enzyme Inhibitors Homo sapiens Inborn Errors of Metabolism Male Middle Aged Urolithiasis | ||
| 4 (4.0%) |
30106368 |
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
. Cochran B, Kovaikova T, Hodaova K, ivna M, Hnizda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ. Clin Nephrol. 2018;90(4):296-301. |
| Nephropathy | ||
| APRT EGFR | ||
| c|SUB|C|195|G g|SUB|G|88877985|C;RS#:752977102 p|SUB|H|54|D;RS#:752977102 | ||
| Adenine Phosphoribosyltransferase Antimetabolites Chronic Kidney Insufficiency Glomerular Filtration Rate Homo sapiens Inborn Errors of Metabolism Kidney Calculi Male Middle Aged Nephritis, Interstitial Urolithiasis | ||
| 4 (4.0%) |
29657221 |
Unusual cause of crystalline nephropathy. Gopalakrishnan N, Rajasekar D, Dhanapriya J, Dineshkumar T, Sakthirajan R, Balasubramaniyan T, Murugesan V. Saudi J Kidney Dis Transpl. 2018;29(2):462-465. |
| Proteinuria | ||
| APRT XDH | ||
| Adenine Phosphoribosyltransferase Biological Markers Biopsy Crystallization Females Homo sapiens Inborn Errors of Metabolism Nephrotic Syndrome Proteinuria Urinalysis Urolithiasis Young Adult | ||
| 4 (4.0%) |
28566603 (5498204) |
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. Nanmoku K, Kurosawa A, Shinzato T, Shimizu T, Kimura T, Yagisawa T. Intern Med. 2017;56(11):1387-1391. |
| Nephropathy | ||
| APRT | ||
| Adenine Phosphoribosyltransferase Adult Gout Suppressants Homo sapiens Inborn Errors of Metabolism Kidney Transplantation Male Urolithiasis | ||
| 4 (4.0%) |
28466077 (5399732) |
Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis. Jaffer A, Joyce A, Koenig P, Biyani CS. J Endourol Case Rep. 2017;3(1):49-51. |
| Shock | ||
| APRT | ||
| 4 (4.0%) |
27447713 |
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant. George SA, Al-Rushaidan S, Francis I, Soonowala D, Nampoory MRN. Exp Clin Transplant. 2017;15(5):574-577. |
| Nephropathy | ||
| APRT XDH | ||
| Adenine Phosphoribosyltransferase Adult Biological Markers Biopsy Enzyme Inhibitors Females Homo sapiens Inborn Errors of Metabolism Kidney Failure, Chronic Kidney Transplantation Urolithiasis Xanthine Dehydrogenase |
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 |