Disease #03712

Official abbreviation APRTD
Name AMP pyrophorylase deficiency (APRTD)
OMIM ID 614723
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 135
Phenotype entries for this disease 102
Associated with 1 gene APRT
Associated tissues -
Disease features -
Remarks Type I deficiency (complete enzyme deficiency), Type II deficiency (complete deficiency in vivo but partial deficiency in cell extracts)


Individuals

135 entries on 2 pages. Showing entries 1 - 100.
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00263054 SL4752 - - F ? Italy - 65y 0 - kidney transplant APRTD HP:0003774 APRT APRT 1 1 Daniela Francesca Giachino
00263055 SL4569 - - F ? Italy - 73y 0 - kidney transplant APRTD HP:0003774 APRT APRT 1 1 Daniela Francesca Giachino
00263056 Fam1 PubMed: Bollee 2010 family, 1 affected - - - (France) - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263057 Fam2 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - APRT APRT 1 2 Johan den Dunnen
00263058 Fam3 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - APRT APRT 2 2 Johan den Dunnen
00263059 Fam4 PubMed: Bollee 2010 family, 1 affected - - - Turkey - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263060 Fam5 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263061 Fam6 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263062 Fam7 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263063 Fam8 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263064 Fam9 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263065 Fam10 PubMed: Bollee 2010 family, 2 affected - - - France - 0 - - APRTD - APRT APRT 1 2 Johan den Dunnen
00263066 Fam11 PubMed: Bollee 2010 family, 3 affected - - - France - 0 - - APRTD - APRT APRT 1 3 Johan den Dunnen
00263067 Fam12 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263068 Fam13 PubMed: Bollee 2010 family, 1 affected - - - Poland - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263069 Fam14 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263070 Fam15 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263071 Fam16 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263072 Fam17 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263073 Fam18 PubMed: Bollee 2010 family, 3 affected - - - France - 0 - - APRTD - APRT APRT 2 3 Johan den Dunnen
00263074 Fam19 PubMed: Bollee 2010 family, 1 affected - - - Morocco - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263075 Fam20 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00263076 Fam21 PubMed: Bollee 2010 family, 1 affected - - - Senegal - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263077 Fam22 PubMed: Bollee 2010 family, 1 affected - - - Spain - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263078 Fam23 PubMed: Bollee 2010 family, 1 affected - - - Lebanon - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263079 Fam24 PubMed: Bollee 2010 family, 1 affected - - - Portugal - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263080 Fam25 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263081 Fam26 PubMed: Bollee 2010 family, 1 affected - - - Italy - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263082 Fam27 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263083 Fam28 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263084 Fam29 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00263085 Fam30 PubMed: Bollee 2010 family, 1 affected - - - Martinique - 0 - - APRTD - APRT - 0 1 Johan den Dunnen
00263086 Fam31 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - APRTD - APRT APRT 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 APRT APRT 2 2 Johan den Dunnen
00301006 WR2 PubMed: Hidaka 1988 - - - Japan - - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00301007 WR15 PubMed: Mimori 1991 - - - Japan - - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00301008 WR10 PubMed: Mimori 1991 - - - Japan - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301009 WR128 PubMed: Mimori 1991 - - - Japan - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301010 WR158 PubMed: Mimori 1991 - - - Japan - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301011 ASA1 PubMed: Sahota 1990 - M yes Japan - - 0 - - APRTD TypeI deficiency APRT APRT 2 1 Johan den Dunnen
00301012 TAK2 PubMed: Sahota 1990 - M no Japan - - 0 - - APRTD typeII deficiency APRT APRT 3 1 Johan den Dunnen
00301013 SEM1 PubMed: Sahota 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Hungary - - 0 - - APRTD - APRT APRT 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; ... APRT APRT 1 2 Johan den Dunnen
00301015 WR182 PubMed: Kamatani 1992 - - - Japan - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301016 - PubMed: Kamatani 1992 43 unrelated cases - - Japan - - 0 - - APRTD - APRT APRT 1 43 Johan den Dunnen
00301017 - PubMed: Kamatani 1992 7 unrelated cases - - Japan - - 0 - - APRTD - APRT APRT 2 7 Johan den Dunnen
00301018 - PubMed: Kamatani 1992 - - - Japan - - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00301019 - PubMed: Kamatani 1992 11 unrelated cases - - Japan - - 0 - - APRTD - APRT APRT 1 11 Johan den Dunnen
00301020 - PubMed: Kamatani 1992 3 unrelated cases - - Japan - - 0 - - APRTD - APRT APRT 1 3 Johan den Dunnen
00301021 - PubMed: Kamatani 1992 - - - - - - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00301022 - PubMed: Kamatani 1992 2 unrelated cases - - Japan - - 0 - - APRTD - APRT APRT 1 2 Johan den Dunnen
00301023 - PubMed: Kamatani 1992 - - - Japan - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301024 - PubMed: Higashimoto 1995 analysis 6 cases not carrying known variantsjap - - Japan - - 0 - - APRTD - APRT APRT 1 2 Johan den Dunnen
00301025 - PubMed: Higashimoto 1995 analysis 6 cases not carrying known variants - - Japan - - 0 - - APRTD - APRT APRT 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 APRT APRT 1 2 Johan den Dunnen
00301027 FIC/PatA PubMed: Chen 1993, PubMed: Menardi 1997 - - - Austria - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301028 RAZ PubMed: Chen 1993 - - - Iraq - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301029 MAH PubMed: Chen 1993 - - - Pakistan - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301030 BRO PubMed: Chen 1993 - - - United States - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301031 FamPatVI-HH PubMed: Chen 1991 7-generation family, 3 affected (2F, M) M - Iceland - - 0 - - APRTD - APRT APRT 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 APRT APRT 1 1 Johan den Dunnen
00301033 FamPatVII-HS PubMed: Chen 1991 - F - Iceland - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301034 PJ PubMed: Chen 1991 - F - Iceland - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301035 HE PubMed: Chen 1991 - F - Iceland - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301036 SB PubMed: Chen 1991 - F - United Kingdom (Great Britain) - - 0 - - APRTD - APRT APRT 1 1 Johan den Dunnen
00301037 PatA PubMed: Taniguchi 2004 - M - Japan - - 0 - - APRTD 20y-passing a number of urolithiasis, chronic renal failure APRT APRT 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 APRT APRT 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 APRT APRT 2 1 Johan den Dunnen
00301040 SY PubMed: Taniguchi 1998 - M - Japan - - 0 - - APRTD see paper; ... APRT APRT 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 APRT APRT 2 1 Johan den Dunnen
00301075 patient PubMed: Nozue 2011 - M - Japan - - 0 - - APRTD - APRT APRT 2 1 Johan den Dunnen
00301076 patient PubMed: Di Pietro 2007 - M - Italy - - 0 - - APRTD - APRT APRT 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 - APRT APRT 1 1 Johan den Dunnen
00301078 PatB PubMed: Menardi 1997 - - - Austria - - 0 - - APRTD - APRT APRT 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; ... APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 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) APRT APRT 1 1 Johan den Dunnen
00301125 patient PubMed: Ceballos-Picot 2018 - M - India - - 0 - - APRTD see paper; ... APRT APRT 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 APRT APRT 1 1 Johan den Dunnen
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