Disease #00269 (PKD1 (kidney disease, polycystic, type 1 (PKD-1)), OMIM:173900)

Official abbreviation PKD1
Name kidney disease, polycystic, type 1 (PKD-1)
OMIM ID 173900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 310
Phenotype entries for this disease 238
Associated with 1 gene PKD1
Associated tissues -
Disease features -
Remarks -


Individuals

310 entries on 4 pages. Showing entries 1 - 100.
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00017058 - PubMed: Peral 1997 - ? - United Kingdom (Great Britain) - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00017059 - PubMed: Peral 1997 4-generation family ? - United Kingdom (Great Britain) - - 0 - - PKD1 ESRD onset 53y, affected brother/father died at 46y/42y, niece with renal cysts available for study PKD1 PKD1 1 1 Johan den Dunnen
00017062 - PubMed: Peral 1997 large family, 3-generation ADPKD, proband with 5 affected children M no United Kingdom (Great Britain) - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00017063 - PubMed: Peral 1997 positive family history M no United Kingdom (Great Britain) - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00017932 - PubMed: European PKD Consortium 1994 3-generation family, 34 affecteds - no ? (unknown) - - 0 - - PKD1 - PKD1 PKD1 1 4 Johan den Dunnen
00017933 - PubMed: European PKD Consortium 1994 3-generation family, 1 affected ? no ? (unknown) - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00017934 - PubMed: Turco 1995 3-generation family, 8 affecteds - no Italy - - 0 - - PKD1 - PKD1 PKD1 1 8 Johan den Dunnen
00017935 - PubMed: Peral 1996 3 generations; 3 affected ind.; 4 unaffected ind. available for linkage analysis. Clin. info available 5 patients (2 now deceased); ? ? United Kingdom (Great Britain) - - 0 - - PKD1 3 in generation I age onset ESDR 57y, 54y, and 53y; generation II raised SC levels: 103 51y, 253 46y PKD1 PKD1 1 5 Johan den Dunnen
00017936 - PubMed: Peral 1996 4 generation family, 3 affected cousins ? ? (United Kingdom (Great Britain)) - - 0 - - PKD1 1 ESRD at 61y, 1 raised SC of 153 at 58y, 1 has a normal SC level of 66 at 43y. PKD1 PKD1 1 3 Johan den Dunnen
00017937 - PubMed: Peral 1996 2 generation family, 3 affected + 2 unaffected subjects. ? ? United Kingdom (Great Britain) - - 0 - - PKD1 Age ESRD 49y in affected mother (now deceased) and 42y in son. 2nd affected son has polycystic kidneys diagnosed on ultrasound. PKD1 PKD1 1 1 Johan den Dunnen
00017938 - PubMed: Peral 1996 5 generations; 17 samples of at risk objects. ? ? United Kingdom (Great Britain) - - 0 - - PKD1 Age at death: generation II: 42y + 58y, Generation III: 44y, 55y, 56y, 61y, no ESRD. Age at ESRD: Generation II: 55y, Generation III: 65y, Generation IV: 51y, 48y. Generation II: 1 subject is approaching renal failure at 63y, SC level of 529. Generation IV: 2 ind. have elevated SC levels of 309 (53 y) and 326 (49y), 3 ind. in generation V have normal SC levels; 78 at 26y, 87 at 28y, 91 at 33y. PKD1 PKD1 1 17 Johan den Dunnen
00017939 - PubMed: Peral 1996 4 generation family; 5 affected and 2 unaffected subjects available for study. ? ? ? (unknown) - - 0 - - PKD1 2 sub. reached renal failure at 61y (gen II) and 45y (gen III). 2 sub from gen III have near normal (90 at 47y) or significantly elevated SC levels (177 at 49y). 2 sub from gen IV have SC levels of 89 and 82 at 28y and 21y. PKD1 PKD1 1 1 Johan den Dunnen
00017940 - PubMed: Neophytou 1996 - ? ? Cyprus Cypriot - 0 - - PKD1 8 family members were confirmed as polycystic kidney patients. 2 patients reached end-stage renal failure and started hemodialysis at 47y and 64y. Both successfully received transplants, later died due to coronary/artery disease and myocardial infarctions. All other affected members, aged 18–50y, have large polycystic kidneys with large cysts appearing early in their second and third decades of life. Affected members develop various degrees of kidney failure and hypertension. PKD1 - 0 1 Johan den Dunnen
00017941 - PubMed: Peral 1996 3 generation family; dizygotic twin (M/F), unaffected (grand)parents ? ? (United Kingdom (Great Britain)) - - 0 - - PKD1 28y:bilateral, multiple renal cysts were detected in the father, asymptomatic and normal renal size + function; III2 is now 6y: kidneys continue to be enlarged (>95th centile), multiple cysts, since 2y: hypertensive renal function remains normal. PKD1 PKD1 1 1 Johan den Dunnen
00017942 - PubMed: Rossetti 1996 - ? - Italy Italian - 0 - - PKD1 - PKD1 - 0 1 Johan den Dunnen
00017944 - PubMed: Peral 1997 positive family history but only living affected member F no United Kingdom (Great Britain) - - 0 - - PKD1 ESRD onset 53y; affected father, grandfather, cousin, great uncle had died at 48y, 63y, 43y, 60y PKD1 PKD1 1 1 Johan den Dunnen
00017945 - PubMed: Peral 1997 - ? no United Kingdom (Great Britain) - - 0 - - PKD1 ESRD onset 47y, affected sister and three children, ages 28y, 23y and 22y with renal cysts but normal renal function PKD1 PKD1 1 1 Johan den Dunnen
00017948 - PubMed: Peral 1997 positive family history, MZ twin daughters (4y) few cysts in each kidney M ? United Kingdom (Great Britain) - - 0 - - PKD1 33y elevated blood pressure, chronic renal disease; MZ twin daughters (4y) few cysts in each kidney, organs not enlarged, twins remained normotensive PKD1 PKD1 1 1 Johan den Dunnen
00017949 - PubMed: Peral 1997 negative family history ? - United Kingdom (Great Britain) - - 0 - - PKD1 ESRD onset 57y, two daughters negative renal ultrasounds (37y and 34y) PKD1 PKD1 1 1 Johan den Dunnen
00017950 - PubMed: Peral 1997 - ? - United Kingdom (Great Britain) - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00017954 - PubMed: Watnick 1997 3-generation family, individual has affected carrier brother, daughter, niece ? - (United States) - - 0 - - PKD1 - PKD1 PKD1 1 4 Johan den Dunnen
00017955 FamJHU086 PubMed: Watnick 1997 - ? - United States German - 0 - - PKD1 - PKD1 PKD1 5 1 Johan den Dunnen
00017956 - PubMed: Watnick 1997 - ? - (United States) - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00017957 - PubMed: Watnick 1997 - ? - United States - - 0 - - PKD1 - PKD1 PKD1 2 1 Johan den Dunnen
00017960 FamJHU273 PubMed: Watnick 1997 4-generation family, 7 affecteds ? - United States - - 0 - - PKD1 - PKD1 PKD1 6 7 Johan den Dunnen
00017961 - PubMed: Roelfsema 1997 - ? - Netherlands - - 0 - - PKD1 - PKD1 PKD1 1 4 Johan den Dunnen
00017962 - PubMed: Roelfsema 1997 - ? - Netherlands - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00017963 - PubMed: Roelfsema 1997 - ? - Netherlands - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00017964 - PubMed: Roelfsema 1997 large multi-generation family (>75 individuals) probably linked to amily 133 ? - Netherlands - - 0 - - PKD1 - PKD1 PKD1 1 10 Johan den Dunnen
00017965 - PubMed: Roelfsema 1997 4-generation family, 10 affecteds - no Netherlands - - 0 - - PKD1 - PKD1 PKD1 1 10 Johan den Dunnen
00017966 - PubMed: Roelfsema 1997 multi-generation family - no Netherlands - - 0 - - PKD1 - PKD1 PKD1 1 5 Johan den Dunnen
00017967 - PubMed: Roelfsema 1997 multi-generation family - no Netherlands - - 0 - - PKD1 - PKD1 PKD1 1 4 Johan den Dunnen
00018043 - PubMed: Rossetti 2001 - ? - ? (unknown) - - 0 - - PKD1 - PKD1 PKD1 1 3 Johan den Dunnen
00018062 - PubMed: Rossetti 2001 - ? - ? (unknown) - - 0 - - PKD1 - PKD1 PKD1 1 7 Johan den Dunnen
00018063 - PubMed: Rossetti 2001 - ? - ? (unknown) - - 0 - - PKD1 - PKD1 PKD1 1 2 Johan den Dunnen
00018064 - PubMed: Rossetti 2001 family, 2 affecteds ? - ? (unknown) - - 0 - - PKD1 family history of PKD PKD1 PKD1 1 2 Johan den Dunnen
00018315 - PubMed: Tsukamoto 2008 mother of NPHP patient F no Japan - - 0 - - PKD1 - PKD1 PKD1 1 1 Johan den Dunnen
00050131 - - 4-generation family, 3 affected M no Italy white - 0 - - PKD1 - - - 0 1 Paola Carrera
00050132 - - 4-generation family, 3 affected M no Italy white - 0 - - PKD1 - - - 0 3 Johan den Dunnen
00050133 - - large 4-generation family, 3 affected M no Italy white - 0 - - PKD1 prevalence of cerebrovascular disease PKD1 PKD1 2 3 Paola Carrera
00058842 - Carrera et al., submitted large 4-generation family, 3 affecteds M no Italy white - 0 contributing lab 1 - PKD1 prevalence of cerebrovascular disease PKD1 PKD1 2 1 Paola Carrera
00058843 - Carrera et al., submitted 4-generation family, 5 affected M no Italy white - 0 contributing lab 1 maintenance therapy PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058845 - Carrera et al., submitted large 5-generation family, 13 affecteds M - Italy white - 0 contributing lab 1 renal transplantation PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058846 - Carrera et al., submitted - M - Italy white - 0 contributing lab 2 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058847 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058848 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058849 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 no aneurysm PKD1 PKD1 2 1 Paola Carrera
00058850 - Carrera et al., submitted large 5-generation family, 13 affecteds F - Italy white - 0 contributing lab 1 - PKD1 cerebral aneurysm PKD1 PKD1 1 1 Paola Carrera
00058852 - Carrera et al., submitted large 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058854 - Carrera et al., submitted 3-generation family F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058856 - Carrera et al., submitted ? M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058860 - Carrera et al., submitted 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058861 - Carrera et al., submitted 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058862 - Carrera et al., submitted 3-generation family F - Italy white - 0 contributing lab 1 - PKD1 no aneurysm PKD1 PKD1 3 1 Paola Carrera
00058863 - Carrera et al., submitted ? F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058864 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm PKD1 PKD1 2 1 Paola Carrera
00058866 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm PKD1 PKD1 2 1 Paola Carrera
00058867 - Carrera et al., submitted large 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058868 - Carrera et al., submitted large 4-generation family M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058869 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058870 - Carrera et al., submitted 3-generation family M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm PKD1 PKD1 3 1 Paola Carrera
00058872 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058873 - Carrera et al., submitted large 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058875 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058876 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 hypertension 120/85 PKD1 PKD1 1 1 Paola Carrera
00058877 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058878 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058879 - Carrera et al., submitted 3-generation family M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm PKD1 PKD1 2 1 Paola Carrera
00058880 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058881 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 5 1 Paola Carrera
00058882 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 3 1 Paola Carrera
00058883 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058885 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm PKD1 PKD1 1 1 Paola Carrera
00058886 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm PKD1 PKD1 1 1 Paola Carrera
00058887 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058888 - Carrera et al., submitted ? M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058889 - Carrera et al., submitted 2-generation family M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058890 - Carrera et al., submitted large 2-generation family M - Italy white - 0 contributing lab 1 dyalisis PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058891 - Carrera et al., submitted ? F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058892 - Carrera et al., submitted large-3 generation family M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058893 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058894 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 3 1 Paola Carrera
00058895 - Carrera et al., submitted large-3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058896 - Carrera et al., submitted large-3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058897 - Carrera et al., submitted large-3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058898 - Carrera et al., submitted 3 generation family F - Philippines asian - 0 contributing lab 3 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058900 - Carrera et al., submitted 3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058901 - Carrera et al., submitted 3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058902 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058903 - Carrera et al., submitted 3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058904 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 4 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058905 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 4 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058906 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058907 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058908 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 5 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058910 - Carrera et al., submitted - M - Italy white - 0 contributing lab 5 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058911 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 5 maintenance therapy PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058912 - Carrera et al., submitted large 5-generation family, 13 affecteds F - Italy white - 0 contributing lab 1 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
00058914 - Carrera et al., submitted 3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 2 1 Paola Carrera
00058915 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - PKD1 PKD1 1 1 Paola Carrera
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