All individuals with variants in gene APRT

132 entries on 2 pages. Showing entries 1 - 100.
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VIP     

Data_av     

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Phenotype details     

Variants     

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00263054 SL4752 - - F ? Italy - 65y 0 - kidney transplant APRTD HP:0003774 1 1 Daniela Francesca Giachino
00263055 SL4569 - - F ? Italy - 73y 0 - kidney transplant APRTD HP:0003774 1 1 Daniela Francesca Giachino
00263056 Fam1 PubMed: Bollee 2010 family, 1 affected - - - (France) - 0 - - APRTD - 1 1 Johan den Dunnen
00263057 Fam2 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - 1 2 Johan den Dunnen
00263058 Fam3 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - 2 2 Johan den Dunnen
00263059 Fam4 PubMed: Bollee 2010 family, 1 affected - - - Turkey - 0 - - APRTD - 1 1 Johan den Dunnen
00263060 Fam5 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263061 Fam6 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263062 Fam7 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263063 Fam8 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 1 1 Johan den Dunnen
00263064 Fam9 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263065 Fam10 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - 1 2 Johan den Dunnen
00263066 Fam11 PubMed: Bollee 2010 family, 3 affected - - - France - 0 - - APRTD - 1 3 Johan den Dunnen
00263067 Fam12 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263068 Fam13 PubMed: Bollee 2010 family, 1 affected - - - Poland - 0 - - APRTD - 1 1 Johan den Dunnen
00263069 Fam14 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263070 Fam15 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263071 Fam16 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263072 Fam17 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 1 1 Johan den Dunnen
00263073 Fam18 PubMed: Bollee 2010 family, 3 affected - - - France - 0 - - APRTD - 2 3 Johan den Dunnen
00263074 Fam19 PubMed: Bollee 2010 family, 1 affected - - - Morocco - 0 - - APRTD - 1 1 Johan den Dunnen
00263075 Fam20 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 2 1 Johan den Dunnen
00263076 Fam21 PubMed: Bollee 2010 family, 1 affected - - - Senegal - 0 - - APRTD - 1 1 Johan den Dunnen
00263077 Fam22 PubMed: Bollee 2010 family, 1 affected - - - Spain - 0 - - APRTD - 1 1 Johan den Dunnen
00263078 Fam23 PubMed: Bollee 2010 family, 1 affected - - - Lebanon - 0 - - APRTD - 1 1 Johan den Dunnen
00263079 Fam24 PubMed: Bollee 2010 family, 1 affected - - - Portugal - 0 - - APRTD - 1 1 Johan den Dunnen
00263080 Fam25 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 1 1 Johan den Dunnen
00263081 Fam26 PubMed: Bollee 2010 family, 1 affected - - - Italy - 0 - - APRTD - 1 1 Johan den Dunnen
00263082 Fam27 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 1 1 Johan den Dunnen
00263083 Fam28 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 1 1 Johan den Dunnen
00263084 Fam29 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 1 1 Johan den Dunnen
00263086 Fam31 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - 1 1 Johan den Dunnen
00301005 Pat904/905 PubMed: Hidaka 1987 2-generation family, 2 affected brothers, unaffected parents M - Belgium - - 0 - - APRTD complete APRT deficient 2 2 Johan den Dunnen
00301006 WR2 PubMed: Hidaka 1988 - - - Japan - - 0 - - APRTD - 2 1 Johan den Dunnen
00301007 WR15 PubMed: Mimori 1991 - - - Japan - - 0 - - APRTD - 2 1 Johan den Dunnen
00301008 WR10 PubMed: Mimori 1991 - - - Japan - - 0 - - APRTD - 1 1 Johan den Dunnen
00301009 WR128 PubMed: Mimori 1991 - - - Japan - - 0 - - APRTD - 1 1 Johan den Dunnen
00301010 WR158 PubMed: Mimori 1991 - - - Japan - - 0 - - APRTD - 1 1 Johan den Dunnen
00301011 ASA1 PubMed: Sahota 1990 - M yes Japan - - 0 - - APRTD TypeI deficiency 2 1 Johan den Dunnen
00301012 TAK2 PubMed: Sahota 1990 - M no Japan - - 0 - - APRTD typeII deficiency 3 1 Johan den Dunnen
00301013 SEM1 PubMed: Sahota 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Hungary - - 0 - - APRTD - 2 1 Johan den Dunnen
00301014 FamPatSF/BB PubMed: Sahota 1994 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Canada - - 0 - - APRTD see paper; ... 1 2 Johan den Dunnen
00301015 WR182 PubMed: Kamatani 1992 - - - Japan - - 0 - - APRTD - 1 1 Johan den Dunnen
00301016 - PubMed: Kamatani 1992 43 unrelated cases - - Japan - - 0 - - APRTD - 1 43 Johan den Dunnen
00301017 - PubMed: Kamatani 1992 7 unrelated cases - - Japan - - 0 - - APRTD - 2 7 Johan den Dunnen
00301018 - PubMed: Kamatani 1992 - - - Japan - - 0 - - APRTD - 2 1 Johan den Dunnen
00301019 - PubMed: Kamatani 1992 11 unrelated cases - - Japan - - 0 - - APRTD - 1 11 Johan den Dunnen
00301020 - PubMed: Kamatani 1992 3 unrelated cases - - Japan - - 0 - - APRTD - 1 3 Johan den Dunnen
00301021 - PubMed: Kamatani 1992 - - - - - - 0 - - APRTD - 2 1 Johan den Dunnen
00301022 - PubMed: Kamatani 1992 2 unrelated cases - - Japan - - 0 - - APRTD - 1 2 Johan den Dunnen
00301023 - PubMed: Kamatani 1992 - - - Japan - - 0 - - APRTD - 1 1 Johan den Dunnen
00301024 - PubMed: Higashimoto 1995 analysis 6 cases not carrying known variantsjap - - Japan - - 0 - - APRTD - 1 2 Johan den Dunnen
00301025 - PubMed: Higashimoto 1995 analysis 6 cases not carrying known variants - - Japan - - 0 - - APRTD - 2 1 Johan den Dunnen
00301026 AW/SW PubMed: Gathof 1990, PubMed: Chen 1993 2-generation family, 2 affected twin brothers, unaffected heterozygous carrier parents/relatives M - Germany - - 0 - - APRTD type I deficiency; renal colic and discharge of stones caused by excessive urolithiasis 1 2 Johan den Dunnen
00301027 FIC/PatA PubMed: Chen 1993, PubMed: Menardi 1997 - - - Austria - - 0 - - APRTD - 1 1 Johan den Dunnen
00301028 RAZ PubMed: Chen 1993 - - - Iraq - - 0 - - APRTD - 1 1 Johan den Dunnen
00301029 MAH PubMed: Chen 1993 - - - Pakistan - - 0 - - APRTD - 1 1 Johan den Dunnen
00301030 BRO PubMed: Chen 1993 - - - United States - - 0 - - APRTD - 1 1 Johan den Dunnen
00301031 FamPatVI-HH PubMed: Chen 1991 7-generation family, 3 affected (2F, M) M - Iceland - - 0 - - APRTD - 1 3 Johan den Dunnen
00301032 FamPatVII-AJ PubMed: Chen 1991 - F - Iceland - - 0 - - APRTD 10y-recurrent urinary-tract infections; 23y-first renal colic, recurrent attacks since then; 29y-bilateral nephrolithotomy 1 1 Johan den Dunnen
00301033 FamPatVII-HS PubMed: Chen 1991 - F - Iceland - - 0 - - APRTD - 1 1 Johan den Dunnen
00301034 PJ PubMed: Chen 1991 - F - Iceland - - 0 - - APRTD - 1 1 Johan den Dunnen
00301035 HE PubMed: Chen 1991 - F - Iceland - - 0 - - APRTD - 1 1 Johan den Dunnen
00301036 SB PubMed: Chen 1991 - F - United Kingdom (Great Britain) - - 0 - - APRTD - 1 1 Johan den Dunnen
00301037 PatA PubMed: Taniguchi 2004 - M - Japan - - 0 - - APRTD 20y-passing a number of urolithiasis, chronic renal failure 1 1 Johan den Dunnen
00301038 PatB PubMed: Taniguchi 2004 - M - Japan - - 0 - - APRTD hydronephrosis left kidney due to ureteral stones, shock wave lithotripsy performed 1 1 Johan den Dunnen
00301039 PatC PubMed: Taniguchi 2004 - M - Japan - - 0 - - APRTD passed a urolithiasis; ultrasonographic examination demonstrated many small stones both kidneys 2 1 Johan den Dunnen
00301040 SY PubMed: Taniguchi 1998 - M - Japan - - 0 - - APRTD see paper; ... 1 1 Johan den Dunnen
00301041 - PubMed: Deng 2001 - M - Poland Poland;Germany - 0 - - APRTD see paperp; ..., since birth passing large number of yellowish-red stones some as large a peas 2 1 Johan den Dunnen
00301075 patient PubMed: Nozue 2011 - M - Japan - - 0 - - APRTD - 2 1 Johan den Dunnen
00301076 patient PubMed: Di Pietro 2007 - M - Italy - - 0 - - APRTD - 1 1 Johan den Dunnen
00301077 Pat1/2 PubMed: Perruzza 2008 2-generation family, 2 affected nephews, unaffected heterozygous carrier parents/relatives M - Italy - - 0 - - APRTD - 1 1 Johan den Dunnen
00301078 PatB PubMed: Menardi 1997 - - - Austria - - 0 - - APRTD - 2 1 Johan den Dunnen
00301101 PatAP PubMed: Marra 2012 2-generation family, 2 affected sisters, unaffected heterozygous carrier father/relatives M no Italy - - 0 - - APRTD see paper; ... 2 1 Johan den Dunnen
00301102 Pat1 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD renalcolic, urinary tract infection; serum creatinine at diagnosis 0.6 (mg/dL), serum creatinine latest 0.8 (mg/dL) 1 1 Johan den Dunnen
00301103 Pat2 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD nephrolithiasis; serum creatinine at diagnosis 1.3 (mg/dL), serum creatinine latest 0.9 (mg/dL) 1 1 Johan den Dunnen
00301104 Pat3 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD nephrolithiasis; serum creatinine at diagnosis 1.4 (mg/dL), serum creatinine latest 1.0 (mg/dL) 1 1 Johan den Dunnen
00301105 Pat4 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.6 (mg/dL) 1 1 Johan den Dunnen
00301106 Pat5 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD nephrolithiasis; serum creatinine at diagnosis 1.0 (mg/dL), serum creatinine latest 0.8 (mg/dL) 1 1 Johan den Dunnen
00301107 Pat6 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD diaper stain; serum creatinine at diagnosis 0.4 (mg/dL), serum creatinine latest 0.5 (mg/dL) 1 1 Johan den Dunnen
00301108 Pat7 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD nephrolithiasis, acute renal failure; serum creatinine at diagnosis 1.6 (mg/dL), serum creatinine latest 1.0 (mg/dL) 1 1 Johan den Dunnen
00301109 Pat8 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.8 (mg/dL), serum creatinine latest 0.8 (mg/dL) 1 1 Johan den Dunnen
00301110 Pat9 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD nephrolithiasis; serum creatinine at diagnosis 1.2 (mg/dL), serum creatinine latest 1.1 (mg/dL) 1 1 Johan den Dunnen
00301111 Pat10 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.5 (mg/dL), serum creatinine latest 0.7 (mg/dL) 1 1 Johan den Dunnen
00301112 Pat11 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD detected during family screening; serum creatinine latest 1.0 (mg/dL) 1 1 Johan den Dunnen
00301113 Pat12 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD detected during family screening; serum creatinine at diagnosis 0.5 (mg/dL), serum creatinine latest 0.5 (mg/dL) 1 1 Johan den Dunnen
00301114 Pat13 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD nephrolithiasis; serum creatinine at diagnosis 0.4 (mg/dL), serum creatinine latest 0.5 (mg/dL) 1 1 Johan den Dunnen
00301115 Pat14 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD nephrolithiasis; serum creatinine at diagnosis 1.1 (mg/dL), serum creatinine latest 0.9 (mg/dL) 1 1 Johan den Dunnen
00301116 Pat15 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD nephrolithiasis; serum creatinine at diagnosis 0.7 (mg/dL), serum creatinine latest 0.9 (mg/dL) 1 1 Johan den Dunnen
00301117 Pat16 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD chronic renal failure; serum creatinine at diagnosis 12.4 (mg/dL), serum creatinine latest 2.0 (mg/dL) 1 1 Johan den Dunnen
00301118 Pat17 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD nephrolithiasis, acute renal failure; serum creatinine at diagnosis 1.8 (mg/dL), serum creatinine latest 1.5 (mg/dL) 1 1 Johan den Dunnen
00301119 Pat18 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 10.2 (mg/dL), serum creatinine latest 1.6 (mg/dL) 1 1 Johan den Dunnen
00301120 Pat19 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD nephrolithiasis, acute renal failure; serum creatinine at diagnosis 0.9 (mg/dL), serum creatinine latest 0.4 (mg/dL) 1 1 Johan den Dunnen
00301121 Pat20 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 6.4 (mg/dL), serum creatinine latest 4.6 (mg/dL) 1 1 Johan den Dunnen
00301122 Pat21 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - APRTD nephrolithiasis; serum creatinine at diagnosis 0.9 (mg/dL), serum creatinine latest 1.0 (mg/dL) 1 1 Johan den Dunnen
00301123 Pat22 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 3.2 (mg/dL), serum creatinine latest 1.7 (mg/dL) 1 1 Johan den Dunnen
00301124 Pat23 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - APRTD nephrolithiasis, chronic renal failure, death; serum creatinine at diagnosis 4.1 (mg/dL), serum creatinine latest 21.0 (mg/dL) 1 1 Johan den Dunnen
00301125 patient PubMed: Ceballos-Picot 2018 - M - India - - 0 - - APRTD see paper; ... 1 1 Johan den Dunnen
00301128 patient PubMed: Micheli 2010 - M - Italy white - 0 - - APRTD see paper; ..., renal failure; 17y-history of recurrent renal staghorn lithiasis on both sides, revealed by ultrasonography 1 1 Johan den Dunnen
00301129 patient PubMed: Kaartinen 2014 - M - Finland Middle East, white - 0 - - APRTD see paper; ..., recurrent kidney stones from childhood 1 1 Johan den Dunnen
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