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

Legend

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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310 entries on 4 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00017058	-	PubMed: Peral 1997	-	?	-	United Kingdom (Great Britain)	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00017059	-	PubMed: Peral 1997	4-generation family	?	-	United Kingdom (Great Britain)	-	-	-	-	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)	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00017063	-	PubMed: Peral 1997	positive family history	M	no	United Kingdom (Great Britain)	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00017932	-	PubMed: European PKD Consortium 1994	3-generation family, 34 affecteds	-	no	? (unknown)	-	-	-	-	PKD1	-	PKD1	PKD1	1	4	Johan den Dunnen
00017933	-	PubMed: European PKD Consortium 1994	3-generation family, 1 affected	?	no	? (unknown)	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00017934	-	PubMed: Turco 1995	3-generation family, 8 affecteds	-	no	Italy	-	-	-	-	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)	-	-	-	-	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))	-	-	-	-	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)	-	-	-	-	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)	-	-	-	-	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)	-	-	-	-	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	-	-	-	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))	-	-	-	-	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	-	-	-	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)	-	-	-	-	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)	-	-	-	-	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)	-	-	-	-	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)	-	-	-	-	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)	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00017954	-	PubMed: Watnick 1997	3-generation family, individual has affected carrier brother, daughter, niece	?	-	(United States)	-	-	-	-	PKD1	-	PKD1	PKD1	1	4	Johan den Dunnen
00017955	FamJHU086	PubMed: Watnick 1997	-	?	-	United States	German	-	-	-	PKD1	-	PKD1	PKD1	5	1	Johan den Dunnen
00017956	-	PubMed: Watnick 1997	-	?	-	(United States)	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00017957	-	PubMed: Watnick 1997	-	?	-	United States	-	-	-	-	PKD1	-	PKD1	PKD1	2	1	Johan den Dunnen
00017960	FamJHU273	PubMed: Watnick 1997	4-generation family, 7 affecteds	?	-	United States	-	-	-	-	PKD1	-	PKD1	PKD1	6	7	Johan den Dunnen
00017961	-	PubMed: Roelfsema 1997	-	?	-	Netherlands	-	-	-	-	PKD1	-	PKD1	PKD1	1	4	Johan den Dunnen
00017962	-	PubMed: Roelfsema 1997	-	?	-	Netherlands	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00017963	-	PubMed: Roelfsema 1997	-	?	-	Netherlands	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00017964	-	PubMed: Roelfsema 1997	large multi-generation family (>75 individuals) probably linked to amily 133	?	-	Netherlands	-	-	-	-	PKD1	-	PKD1	PKD1	1	10	Johan den Dunnen
00017965	-	PubMed: Roelfsema 1997	4-generation family, 10 affecteds	-	no	Netherlands	-	-	-	-	PKD1	-	PKD1	PKD1	1	10	Johan den Dunnen
00017966	-	PubMed: Roelfsema 1997	multi-generation family	-	no	Netherlands	-	-	-	-	PKD1	-	PKD1	PKD1	1	5	Johan den Dunnen
00017967	-	PubMed: Roelfsema 1997	multi-generation family	-	no	Netherlands	-	-	-	-	PKD1	-	PKD1	PKD1	1	4	Johan den Dunnen
00018043	-	PubMed: Rossetti 2001	-	?	-	? (unknown)	-	-	-	-	PKD1	-	PKD1	PKD1	1	3	Johan den Dunnen
00018062	-	PubMed: Rossetti 2001	-	?	-	? (unknown)	-	-	-	-	PKD1	-	PKD1	PKD1	1	7	Johan den Dunnen
00018063	-	PubMed: Rossetti 2001	-	?	-	? (unknown)	-	-	-	-	PKD1	-	PKD1	PKD1	1	2	Johan den Dunnen
00018064	-	PubMed: Rossetti 2001	family, 2 affecteds	?	-	? (unknown)	-	-	-	-	PKD1	family history of PKD	PKD1	PKD1	1	2	Johan den Dunnen
00018315	-	PubMed: Tsukamoto 2008	mother of NPHP patient	F	no	Japan	-	-	-	-	PKD1	-	PKD1	PKD1	1	1	Johan den Dunnen
00050131	-	-	4-generation family, 3 affected	M	no	Italy	white	-	-	-	PKD1	-	-	-	0	1	Paola Carrera
00050132	-	-	4-generation family, 3 affected	M	no	Italy	white	-	-	-	PKD1	-	-	-	0	3	Johan den Dunnen
00050133	-	-	large 4-generation family, 3 affected	M	no	Italy	white	-	-	-	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	-	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	-	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	-	contributing lab 1	renal transplantation	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058846	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 2	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058847	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058848	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058849	-	Carrera et al., submitted	-	F	-	Italy	white	-	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	-	contributing lab 1	-	PKD1	cerebral aneurysm	PKD1	PKD1	1	1	Paola Carrera
00058852	-	Carrera et al., submitted	large 4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058854	-	Carrera et al., submitted	3-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058856	-	Carrera et al., submitted	?	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058860	-	Carrera et al., submitted	4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058861	-	Carrera et al., submitted	4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058862	-	Carrera et al., submitted	3-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	PKD1	PKD1	3	1	Paola Carrera
00058863	-	Carrera et al., submitted	?	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058864	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	PKD1	PKD1	2	1	Paola Carrera
00058866	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	PKD1	PKD1	2	1	Paola Carrera
00058867	-	Carrera et al., submitted	large 4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058868	-	Carrera et al., submitted	large 4-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058869	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058870	-	Carrera et al., submitted	3-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	PKD1	PKD1	3	1	Paola Carrera
00058872	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058873	-	Carrera et al., submitted	large 4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058875	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058876	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	hypertension 120/85	PKD1	PKD1	1	1	Paola Carrera
00058877	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058878	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058879	-	Carrera et al., submitted	3-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	PKD1	PKD1	2	1	Paola Carrera
00058880	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058881	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	5	1	Paola Carrera
00058882	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	3	1	Paola Carrera
00058883	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058885	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	PKD1	PKD1	1	1	Paola Carrera
00058886	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	PKD1	PKD1	1	1	Paola Carrera
00058887	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058888	-	Carrera et al., submitted	?	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058889	-	Carrera et al., submitted	2-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058890	-	Carrera et al., submitted	large 2-generation family	M	-	Italy	white	-	contributing lab 1	dyalisis	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058891	-	Carrera et al., submitted	?	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058892	-	Carrera et al., submitted	large-3 generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058893	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058894	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	3	1	Paola Carrera
00058895	-	Carrera et al., submitted	large-3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058896	-	Carrera et al., submitted	large-3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058897	-	Carrera et al., submitted	large-3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058898	-	Carrera et al., submitted	3 generation family	F	-	Philippines	asian	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058900	-	Carrera et al., submitted	3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058901	-	Carrera et al., submitted	3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058902	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058903	-	Carrera et al., submitted	3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058904	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 4	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058905	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 4	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058906	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058907	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058908	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 5	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058910	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 5	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058911	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	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	-	contributing lab 1	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera
00058914	-	Carrera et al., submitted	3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	2	1	Paola Carrera
00058915	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	PKD1	PKD1	1	1	Paola Carrera

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Global Variome shared LOVD