Phenotypes for disease #03712 (APRTD (adenine phosphoribosyltransferase deficiency (APRTD)), OMIM:614723)

102 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000201530 HP:0003774 - - Unknown - - - - - Daniela Francesca Giachino 00263054
0000201531 HP:0003774 - - Unknown 73y - - - - Daniela Francesca Giachino 00263055
0000228316 complete APRT deficient - APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301005
0000228317 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301006
0000228318 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301007
0000228319 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301008
0000228320 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301009
0000228321 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301010
0000228322 TypeI deficiency APRT deficiency APRTD Familial, autosomal recessive 13y - - - - Johan den Dunnen 00301011
0000228323 typeII deficiency APRT deficiency APRTD Familial, autosomal recessive 16y - - - - Johan den Dunnen 00301012
0000228324 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301013
0000228325 see paper; ... APRT deficiency APRTD Familial, autosomal recessive 42y - - - - Johan den Dunnen 00301014
0000228326 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301015
0000228327 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301016
0000228328 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301017
0000228329 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301018
0000228330 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301019
0000228331 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301020
0000228332 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301021
0000228333 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301022
0000228334 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301023
0000228335 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301024
0000228336 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301025
0000228337 type I deficiency; renal colic and discharge of stones caused by excessive urolithiasis APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301026
0000228338 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301027
0000228339 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301028
0000228340 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301029
0000228341 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301030
0000228342 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301031
0000228343 10y-recurrent urinary-tract infections; 23y-first renal colic, recurrent attacks since then; 29y-bilateral nephrolithotomy APRT deficiency APRTD Familial, autosomal recessive 42y - 03y - - Johan den Dunnen 00301032
0000228344 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301033
0000228345 - APRT deficiency APRTD Familial, autosomal recessive - - 42y - - Johan den Dunnen 00301034
0000228346 - APRT deficiency APRTD Familial, autosomal recessive - - 01y - - Johan den Dunnen 00301035
0000228347 - APRT deficiency APRTD Familial, autosomal recessive - - 05y - - Johan den Dunnen 00301036
0000228348 20y-passing a number of urolithiasis, chronic renal failure APRT deficiency APRTD Familial, autosomal recessive 72y - - - - Johan den Dunnen 00301037
0000228349 hydronephrosis left kidney due to ureteral stones, shock wave lithotripsy performed APRT deficiency APRTD Familial, autosomal recessive 43y - - - - Johan den Dunnen 00301038
0000228350 passed a urolithiasis; ultrasonographic examination demonstrated many small stones both kidneys APRT deficiency APRTD Familial, autosomal recessive 52y - - - - Johan den Dunnen 00301039
0000228351 see paper; ... APRT deficiency APRTD Familial, autosomal recessive 33y - - - - Johan den Dunnen 00301040
0000228352 see paperp; ..., since birth passing large number of yellowish-red stones some as large a peas APRT deficiency APRTD Familial, autosomal recessive 10y - 05y06m - - Johan den Dunnen 00301041
0000228380 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301075
0000228381 - APRT deficiency APRTD Familial, autosomal recessive 51y - - - - Johan den Dunnen 00301076
0000228382 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301077
0000228383 - APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301078
0000228406 see paper; ... APRT deficiency APRTD Familial, autosomal recessive 03y - 00y08m - - Johan den Dunnen 00301101
0000228407 renalcolic, urinary tract infection; serum creatinine at diagnosis 0.6 (mg/dL), serum creatinine latest 0.8 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 6y - - - Johan den Dunnen 00301102
0000228408 nephrolithiasis; serum creatinine at diagnosis 1.3 (mg/dL), serum creatinine latest 0.9 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 46y - - - Johan den Dunnen 00301103
0000228409 nephrolithiasis; serum creatinine at diagnosis 1.4 (mg/dL), serum creatinine latest 1.0 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 43y - - - Johan den Dunnen 00301104
0000228410 incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.6 (mg/dL) asymptomatic APRTD Familial, autosomal recessive - 1y - - - Johan den Dunnen 00301105
0000228411 nephrolithiasis; serum creatinine at diagnosis 1.0 (mg/dL), serum creatinine latest 0.8 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 42y - - - Johan den Dunnen 00301106
0000228412 diaper stain; serum creatinine at diagnosis 0.4 (mg/dL), serum creatinine latest 0.5 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 6m - - - Johan den Dunnen 00301107
0000228413 nephrolithiasis, acute renal failure; serum creatinine at diagnosis 1.6 (mg/dL), serum creatinine latest 1.0 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 28y - - - Johan den Dunnen 00301108
0000228414 incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.8 (mg/dL), serum creatinine latest 0.8 (mg/dL) asymptomatic APRTD Familial, autosomal recessive - 16y - - - Johan den Dunnen 00301109
0000228415 nephrolithiasis; serum creatinine at diagnosis 1.2 (mg/dL), serum creatinine latest 1.1 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 33y - - - Johan den Dunnen 00301110
0000228416 incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.5 (mg/dL), serum creatinine latest 0.7 (mg/dL) asymptomatic APRTD Familial, autosomal recessive - 6y - - - Johan den Dunnen 00301111
0000228417 detected during family screening; serum creatinine latest 1.0 (mg/dL) asymptomatic APRTD Familial, autosomal recessive - 39y - - - Johan den Dunnen 00301112
0000228418 detected during family screening; serum creatinine at diagnosis 0.5 (mg/dL), serum creatinine latest 0.5 (mg/dL) asymptomatic APRTD Familial, autosomal recessive - 3y - - - Johan den Dunnen 00301113
0000228419 nephrolithiasis; serum creatinine at diagnosis 0.4 (mg/dL), serum creatinine latest 0.5 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 2y7m - - - Johan den Dunnen 00301114
0000228420 nephrolithiasis; serum creatinine at diagnosis 1.1 (mg/dL), serum creatinine latest 0.9 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 43y - - - Johan den Dunnen 00301115
0000228421 nephrolithiasis; serum creatinine at diagnosis 0.7 (mg/dL), serum creatinine latest 0.9 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 33y - - - Johan den Dunnen 00301116
0000228422 chronic renal failure; serum creatinine at diagnosis 12.4 (mg/dL), serum creatinine latest 2.0 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 55y - - - Johan den Dunnen 00301117
0000228423 nephrolithiasis, acute renal failure; serum creatinine at diagnosis 1.8 (mg/dL), serum creatinine latest 1.5 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 41y - - - Johan den Dunnen 00301118
0000228424 nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 10.2 (mg/dL), serum creatinine latest 1.6 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 38y - - - Johan den Dunnen 00301119
0000228425 nephrolithiasis, acute renal failure; serum creatinine at diagnosis 0.9 (mg/dL), serum creatinine latest 0.4 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 8m - - - Johan den Dunnen 00301120
0000228426 nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 6.4 (mg/dL), serum creatinine latest 4.6 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 48y - - - Johan den Dunnen 00301121
0000228427 nephrolithiasis; serum creatinine at diagnosis 0.9 (mg/dL), serum creatinine latest 1.0 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 45y - - - Johan den Dunnen 00301122
0000228428 nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 3.2 (mg/dL), serum creatinine latest 1.7 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 62y - - - Johan den Dunnen 00301123
0000228429 nephrolithiasis, chronic renal failure, death; serum creatinine at diagnosis 4.1 (mg/dL), serum creatinine latest 21.0 (mg/dL) APRT deficiency APRTD Familial, autosomal recessive - 37y - - - Johan den Dunnen 00301124
0000228430 see paper; ... APRT deficiency APRTD Familial, autosomal recessive 10y - - - - Johan den Dunnen 00301125
0000228432 see paper; ..., renal failure; 17y-history of recurrent renal staghorn lithiasis on both sides, revealed by ultrasonography APRT deficiency APRTD Familial, autosomal recessive 48y - - - - Johan den Dunnen 00301128
0000228433 see paper; ..., recurrent kidney stones from childhood APRT deficiency APRTD Familial, autosomal recessive 63y - - - - Johan den Dunnen 00301129
0000228434 see paper; ..., APRT deficiency APRTD Familial, autosomal recessive 52y - - - - Johan den Dunnen 00301130
0000228435 see paper; ... APRT deficiency APRTD Familial, autosomal recessive 23y - - - - Johan den Dunnen 00301131
0000228436 see paper; ..., chronic kidney disease with recurrent stone disease APRT deficiency APRTD Familial, autosomal recessive 18y - - - - Johan den Dunnen 00301132
0000228437 see paper; ..., acute on chronic kidney injury, hypertension, pernicious anaemia, 7-year history type 2 diabetes APRT deficiency APRTD Familial, autosomal recessive 48y - - - - Johan den Dunnen 00301133
0000228438 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301134
0000228439 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301135
0000228440 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301136
0000228441 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301137
0000228442 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301138
0000228443 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301139
0000228444 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301140
0000228445 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301141
0000228446 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301142
0000228447 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301143
0000228448 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301144
0000228449 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301145
0000228450 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301146
0000228451 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301147
0000228452 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301148
0000228453 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301149
0000228454 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301150
0000228455 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301151
0000228456 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301152
0000228457 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301153
0000228458 see paper; ... APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301154
0000228459 see paper; ..., 28y-obstructive chronic kidney disease with crystalluria APRT deficiency APRTD Familial, autosomal recessive 47y - - - - Johan den Dunnen 00301156
0000228461 see paper; ..., painful urination, dysuria APRT deficiency APRTD Familial, autosomal recessive 03y06m - 03y06m - - Johan den Dunnen 00301157
0000228462 see paper; ..., chronic kidney disease, nephrolithiasis APRT deficiency APRTD Familial, autosomal recessive - - - - - Johan den Dunnen 00301158
0000228463 see paper; ..., recurrent urinary tract infection APRT deficiency APRTD Familial, autosomal recessive 00y30m - - - - Johan den Dunnen 00301159
0000228464 see paper; ..., hemodialysis for chronic kidney disease APRT deficiency APRTD Familial, autosomal recessive 28y - - - - Johan den Dunnen 00301160
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