All individuals with variants in gene NPHP3

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

63 entries on 1 page. Showing entries 1 - 63.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00033130	-	-	-	M	-	-	-	-	-	-	-	retinal disease	Wilm's tumor	2	1	Kornelia Neveling
00164068	Sayer JA	-	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	NPHP3	congenital hepatic fibrosis end stage renal disease	2	1	John Sayer
00164069	Sayer JA	-	-	?	no	Germany	-	-	-	-	-	NPHP3	Severe chronic tubule-interstitial damage with atrophy of tubules, interstitial fibrosis and moderate interstitial inflammation Hypertension End stage renal disease 15 years	2	1	John Sayer
00164805	CW	-	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	NPHP3	congenital hepatic fibrosis end stage renal disease	2	1	John Sayer
00288883	P14	PubMed: Al Alawi 2019, Journal: Al Alawi 2019	-	F	?	Oman	-	01y	-	-	-	NPHP1	Failure to thrive, chronic anaemia, ESRD 1 Y. Renal biopsy: cystic dilation of tubules, glomerulosclerosis and advanced interstitial scarring. Liver biopsy: bile duct proliferation, and hepatic fibrosis. Renal USS: increased echogenicity with loss of corticomedullary differentiation and cortical cysts noted in left kidney	1	1	Intisar Al Alawi
00289042	P21	PubMed: Al Alawi 2019, Journal: Al Alawi 2019	fetus from consanguineous family with history of 2 fetal deaths	F	yes	Oman	Arabs	00y00m00d00h	-	-	-	PKD	Family history of 3 fetal deaths. Antenatal USS: kidneys enlarged with no corticomedullary differentiation. Lung hypoplasia.	1	1	Intisar Al Alawi
00293215	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	60	Mohammed Faruq
00293216	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	236	Mohammed Faruq
00293217	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00293218	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293219	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00293220	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	24	Mohammed Faruq
00293221	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00299640	FamGC18203Pat1	PubMed: Arno 2017	3-generation family, 1 affeted, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	retinal disease	see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110	1	1	Johan den Dunnen
00304925	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	9	Mohammed Faruq
00358964	Case72007	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377778	-	PubMed: Otto 2011	-	-	no	Italy	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377913	-	PubMed: Chaki 2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377914	-	PubMed: Chaki 2011	-	-	-	-	-	-	-	-	-	retinal disease	mental retardation, molar tooth sign, cerebellar vermis hypoplasia	1	1	LOVD
00385081	67330	PubMed: Xu 2020	-	?	no	China	-	-	-	-	-	retinal disease	nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: NA	1	1	LOVD
00385228	-	PubMed: Redin-2012	-	-	-	Morocco	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385231	-	PubMed: Redin-2012	-	-	-	-	Melanesian	-	-	-	-	retinal disease	-	1	1	LOVD
00399801	330	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399802	823	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399803	723	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399804	1030	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399805	835	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399806	516	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399807	1006	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399808	1007	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399809	1013	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399810	1017	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399811	1029	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399812	1023	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399813	884	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399814	1008	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399815	1015	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00403762	family	PubMed: Larrue 2020	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	-	France	-	-	-	-	-	NPHP	see paper; ...	2	1	Johan den Dunnen
00407374	F86-1	PubMed: Otto 2008	two individuals from this family	?	yes	Italy	-	-	-	-	-	retinal disease	extrarenal manifestations: none	1	1	LOVD
00407375	F86-2	PubMed: Otto 2008	two individuals from this family	?	yes	Italy	-	-	-	-	-	retinal disease	extrarenal manifestations: none	1	1	LOVD
00407376	A1125-1	PubMed: Otto 2008	two individuals from this family	?	yes	Turkey	-	-	-	-	-	retinal disease	extrarenal manifestations: short stature	1	1	LOVD
00407377	A1125-2	PubMed: Otto 2008	two individuals from this family	?	yes	Turkey	-	-	-	-	-	retinal disease	extrarenal manifestations: short stature	1	1	LOVD
00407643	HNF-38	PubMed: Kang 2016	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	end-stage renal disease (years): 16.7, extra-renal manifestations: none	1	1	LOVD
00407651	J-4	PubMed: Kang 2016	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	end-stage renal disease (years): 16.7, extra-renal manifestations: elliptocytosis	2	1	LOVD
00407652	J-46	PubMed: Kang 2016	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	end-stage renal disease (years): 3.1	1	1	LOVD
00407662	J-83	PubMed: Kang 2016	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	end-stage renal disease (years): 8.4, extra-renal manifestations: none	1	1	LOVD
00413401	IV:1	-	-	M	yes	Saudi Arabia	Arab	00y06m	-	-	-	NPHP	-	1	1	Sulman Basit
00414704	NA01210	PubMed: Bell 2011	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00418821	F9_II-1	PubMed: Hoefele 2007	family F9, individual II-1	M	-	Germany	-	-	-	-	-	NPHP1	age at end-stage renal failure: 7y; extrarenal manifestations: no data available	1	1	LOVD
00418822	F9_II-2	PubMed: Hoefele 2007	family F9, individual II-2	F	-	Germany	-	-	-	-	-	NPHP1	age at end-stage renal failure: 11y; extrarenal manifestations: no data available	1	1	LOVD
00418823	F194_II-1	PubMed: Hoefele 2007	family F194, individual II-1	M	-	Germany	-	-	-	-	-	NPHP1	age at end-stage renal failure: 31y; extrarenal manifestations: retinitis pigmentosa	1	1	LOVD
00418824	F906_II-2	PubMed: Hoefele 2007	family F906, individual II-2	F	-	Russia	-	-	-	-	-	NPHP1	age at end-stage renal failure: 13y; extrarenal manifestations: retinitis pigmentosa	1	1	LOVD
00418827	A11_II-1	PubMed: Hoefele 2007	family A11, individual II-1	M	-	France	-	-	-	-	-	NPHP1	age at end-stage renal failure: 3y; extrarenal manifestations: liver fibrosis	2	1	LOVD
00418828	F24_II-1	PubMed: Hoefele 2007	family F24, individual II-1	F	-	Germany	-	-	-	-	-	NPHP1	extrarenal manifestations: no data available	1	1	LOVD
00418830	F281_II-1	PubMed: Hoefele 2007	family F281, individual II-1	-	-	Germany	-	-	-	-	-	NPHP1	age at end-stage renal failure: 16y; extrarenal manifestations: retinitis pigmentosa	1	1	LOVD
00418831	F16_II-3	PubMed: Hoefele 2007	family F16, individual II-3	-	-	France	-	-	-	-	-	NPHP1	age at end-stage renal failure: 11y; extrarenal manifestations: retinitis pigmentosa	1	1	LOVD
00418832	F 440_II-2	PubMed: Hoefele 2007	family F 440, individual II-2	-	-	Austria	-	-	-	-	-	NPHP1	age at end-stage renal failure: 4y; extrarenal manifestations: liver fibrosis, cone shaped epiphysis, retinitis pigmentosa	1	1	LOVD
00448868	Pat720	PubMed: Fujimaru 2021	-	-	-	Japan	-	-	-	-	-	PKD	see paper; ...	2	1	Johan den Dunnen
00453405	Pat79	PubMed: Ozyavuz Cubuk 2024	-	M	-	Turkey	-	-	-	-	-	PKD	bilateral polycystic kidneys and liver, duodenal diverticulum	1	1	Johan den Dunnen
00457665	PatNPHP3	PubMed: Lord 2024	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	see paper; ..., abnormal renal corpuscle morphology; abnormal liver morphology; abnormal urine metabolite level	2	1	Johan den Dunnen
00468266	GMKF_5	PubMed: Rai 2025	-	F	-	United States	Hispanic;white	-	-	-	-	?	see paper; ..., dextro-transposition great arteries, pulmonary stenosis, ventricular septal defect, left ventricular outflow tract obstruction; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries	1	1	Johan den Dunnen
00469159	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00469160	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

NPHP3 (nephronophthisis 3 (adolescent))