Disease #00399 (NPHS (nephrotic syndrome (NPHS)))

Official abbreviation	NPHS
Name	nephrotic syndrome (NPHS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	61
Phenotype entries for this disease	52
Associated with 13 genes	ADCK4, ARHGDIA, DAAM2, DGKE, EMP2, LAMB2, NPHS1, NPHS2, NUP205, NUP93, PLCE1, PTPRO, WT1
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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.

61 entries on 1 page. Showing entries 1 - 61.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00003250	Fam9	PubMed: Boute 2000	-	?	?	-	(Europe)	-	0	-	-	NPHS	-	NPHS2	AXDND1, NPHS2	2	1	Johan den Dunnen
00003251	Fam15	PubMed: Boute 2000	-	?	yes	-	(Europe)	-	0	-	-	NPHS	-	NPHS2	NPHS2	2	1	Johan den Dunnen
00016935	-	PubMed: Gee 2014	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	?	yes	Turkey	Turkish	-	0	-	steroids, cyclophosphamide	NPHS	Steroid Sensitive Nephrotic Syndrome (SSNS)	EMP2	EMP2	1	2	Marianne Vos (LOVD-team)
00016936	-	PubMed: Gee 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	?	no	Turkey	Turkish	-	0	-	-	NPHS	Steroid Sensitive Nephrotic Syndrome	EMP2	EMP2	2	1	Marianne Vos (LOVD-team)
00016937	-	PubMed: Gee 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	?	-	United States	African American	-	0	-	-	NPHS	Steroid Resistant Nephrotic Syndrome. 5y:renal histology exhibited minimal change disease, and electron microscopy showed diffusely effaced FPs of podocytes with microvillous changes	EMP2	EMP2	1	1	Marianne Vos (LOVD-team)
00018452	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	0	-	-	NPHS	congenital nephrotic syndrome, haematuria	NPHS1	COL4A3, NPHS1	3	1	Elisabet Ars Criach
00018453	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	0	-	-	NPHS	-	NPHS2	COL4A3, NPHS2	3	1	Elisabet Ars Criach
00018845	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	0	-	-	NPHS	-	LAMB2, NPHS1	LAMB2, NPHS1	3	1	Elisabet Ars Criach
00019409	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	0	-	-	NPHS	-	CUBN, NPHS1	CUBN, NPHS1	3	1	Elisabet Ars Criach
00019411	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	0	-	-	NPHS	-	NPHS1, PLCE1	NPHS1, PLCE1	3	1	Elisabet Ars Criach
00019412	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	0	-	-	NPHS	-	NPHS2, PLCE1	NPHS2, PLCE1	2	1	Elisabet Ars Criach
00019413	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	0	-	-	NPHS	-	NPHS1	NPHS1	1	1	Elisabet Ars Criach
00032334	-	PubMed: Ebarasi 2015, Journal: Ebarasi 2015	2 affected sibs, unaffected heterozygous carrier parents	-	yes	Turkey	-	-	0	-	-	NPHS	see paper; steroid-resistant nephrotic syndrome (SRNS), renal histology of focal segmental glomerulosclerosis, ..	CRB2	CRB2	1	2	Johan den Dunnen
00032335	-	PubMed: Ebarasi 2015, Journal: Ebarasi 2015	patient, unaffected heterozygous carrier mother	-	no	United States	European	-	0	-	-	NPHS	see paper; steroid-resistant nephrotic syndrome (SRNS), ..	CRB2	CRB2	2	1	Johan den Dunnen
00032336	-	PubMed: Ebarasi 2015, Journal: Ebarasi 2015	patient, unaffected heterozygous carrier parents	-	yes	Turkey	-	-	0	-	-	NPHS	see paper; steroid-resistant nephrotic syndrome (SRNS), ..	CRB2	CRB2	1	1	Johan den Dunnen
00032337	-	PubMed: Ebarasi 2015, Journal: Ebarasi 2015	patient, unaffected heterozygous carrier parents	-	yes	-	European (Western)	-	0	-	-	NPHS	see paper; steroid-resistant nephrotic syndrome (SRNS), ..	CRB2	CRB2	1	1	Johan den Dunnen
00038646	-	-	-	M	yes	Greece	-	-	0	-	-	NPHS	-	NPHS1, NPHS2, PLCE1, WT1	PLCE1	1	1	Irene (Eirini) Fylaktou
00165177	26878725-FamA2403Pat21	PubMed: Braun 2016	2-generation family, 1 affecteds, unaffected heterozygous carrier parents	F	-	Serbia	-	-	0	-	-	NPHS	see paper; ...	NUP93	NUP93	2	1	Johan den Dunnen
00165178	26878725-FamAA3256Pat21	PubMed: Braun 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Germany	-	-	0	-	-	NPHS	see paper; ...	NUP93	NUP93	2	1	Johan den Dunnen
00165179	26878725-FamA1394Pat21	PubMed: Braun 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Germany	-	-	0	-	-	NPHS	see paper; ...	NUP93	NUP93	2	1	Johan den Dunnen
00165180	26878725-FamA1626Pat21/22	PubMed: Braun 2016	2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents	F;M	no	Turkey	-	-	0	-	-	NPHS	see paper; ...	NUP93	NUP93	1	2	Johan den Dunnen
00165181	26878725-FamA1671Pat21	PubMed: Braun 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Turkey	-	-	0	-	-	NPHS	see paper; ...	NUP93	NUP93	1	1	Johan den Dunnen
00165182	26878725-FamA2241Pat21	PubMed: Braun 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	0	-	-	NPHS	see paper; ...	NUP93	NUP93	1	1	Johan den Dunnen
00165183	26878725-FamA1733Pat21/22	PubMed: Braun 2016	2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents	F;M	yes	Turkey	-	-	0	-	-	NPHS	see paper; ...	NUP205	NUP205	1	2	Johan den Dunnen
00165184	26878725-FamF1092Pat21	PubMed: Braun 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	0	-	-	NPHS	see paper; ...	XPO5	XPO5	1	1	Johan den Dunnen
00165197	NS050	PubMed: Abid 2018, Journal: Abid 2018	non-consanguineous family	M	no	(Pakistan)	-	>13y05m	0	yes	no response to cyclosporine therapy	NPHS	steroid resistant nephrotic syndrome without ocular involvement, isolated NS	LAMB2	LAMB2	1	1	Aiysha Abid
00165201	NS113	PubMed: Abid 2018, Journal: Abid 2018	patient, no family history	M	no	(Pakistan)	-	>01y	0	yes	no response to cyclosporine therapy	NPHS	biopsy focal segmental glomerular sclerosis, isolated steroid resistant nephrotic syndrome without ocular involvement	LAMB2	LAMB2	1	1	Aiysha Abid
00225429	30661770-FamAPatII4	PubMed: Dorval 2019, Journal: Dorval 2019	2-generation family, 3 affected brothers, unaffected carrier mother/sister	M	-	France	-	-	0	-	-	NPHS	see paper; ..., steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis	TBC1D8B	TBC1D8B	1	3	Johan den Dunnen
00225430	30661770-FamBPatII2	PubMed: Dorval 2019, Journal: Dorval 2019	2-generation family, 1 affected, unaffected non-carrier mother	M	-	France	-	-	0	-	-	NPHS	see paper; ..., steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis	TBC1D8B	TBC1D8B	1	1	Johan den Dunnen
00226216	Pat1	PubMed: Aya 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	-	-	Japan	-	-	0	-	-	NPHS	see paper; ...	NPHS1	NPHS1	3	1	Johan den Dunnen
00235448	Family A	PubMed: Miyado 2019	3-generation family, 3 affected heterozygous carriers (3F)	F	-	Japan	-	-	0	-	-	NPHS	see paper; ...	GNAS	GNAS	1	3	Johan den Dunnen
00235449	Family B	PubMed: Miyado 2019	3-generation family, 3 affected heterozygous carriers (2F)	F	-	Japan	-	-	0	-	-	NPHS	see paper; ...	GNAS	GNAS	1	2	Johan den Dunnen
00314938	NS001	PubMed: Abid 2018, Journal: Abid 2018	no family history	M	-	Pakistan	-	-	0	-	-	NPHS	biopsy IgM nephropathy; steroid resistant nephrotic syndrome; expired with end stage renal disease	LAMB2	LAMB2	2	1	Aiysha Abid
00314939	NS032	PubMed: Abid 2018, Journal: Abid 2018	family history	F	-	Pakistan	-	-	0	-	-	NPHS	biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; partial remission with Cyclosporine A	LAMB2	LAMB2	2	1	Aiysha Abid
00314940	NS301	PubMed: Abid 2018, Journal: Abid 2018	family history	M	-	Pakistan	-	-	0	-	-	NPHS	steroid resistant nephrotic syndrome; no response	NPHS1	NPHS1	1	1	Aiysha Abid
00314941	NS313	PubMed: Abid 2018, Journal: Abid 2018	no family history	M	-	Pakistan	-	-	0	-	-	NPHS	biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome;	NPHS2	NPHS2	1	1	Aiysha Abid
00314942	NS304	PubMed: Abid 2018, Journal: Abid 2018	no family history	M	-	Pakistan	-	-	0	-	-	NPHS	biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; end stage renal disease	NPHS2	NPHS2	1	1	Aiysha Abid
00314943	NS228	PubMed: Abid 2018, Journal: Abid 2018	no family history	M	-	Pakistan	-	-	0	-	-	NPHS	biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; no response	NPHS2	NPHS2	1	1	Aiysha Abid
00314944	NS245	PubMed: Abid 2018, Journal: Abid 2018	no family history	F	-	Pakistan	-	-	0	-	-	NPHS	biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; partial remission	NPHS2	NPHS2	1	1	Aiysha Abid
00314945	NS003	PubMed: Abid 2018, Journal: Abid 2018	no family history	F	-	Pakistan	-	-	0	-	-	NPHS	biopsy minimal change disease; steroid resistant nephrotic syndrome; maintained on ACEI 5y follow up	LAMB2	LAMB2	1	1	Aiysha Abid
00314946	NS008	PubMed: Abid 2018, Journal: Abid 2018	no family history	M	-	Pakistan	-	-	0	-	-	NPHS	steroid resistant nephrotic syndrome; in remission	LAMB2	LAMB2	1	1	Aiysha Abid
00314947	NS094	PubMed: Abid 2018, Journal: Abid 2018	family history	F	-	Pakistan	-	-	0	-	-	NPHS	biopsy minimal change disease; steroid resistant nephrotic syndrome; switched to Tac due toCyclosporine A toxicity, partial remission	LAMB2	LAMB2	1	1	Aiysha Abid
00314948	NS118	PubMed: Abid 2018, Journal: Abid 2018	no family history	M	-	Pakistan	-	-	0	-	-	NPHS	biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; in remission after Cyclosporine A	LAMB2	LAMB2	1	1	Aiysha Abid
00314949	NS125	PubMed: Abid 2018, Journal: Abid 2018	no family history	F	-	Pakistan	-	-	0	-	-	NPHS	biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; end stage renal disease	LAMB2	LAMB2	1	1	Aiysha Abid
00314950	NS134	PubMed: Abid 2018, Journal: Abid 2018	no family history	F	-	Pakistan	-	-	0	-	-	NPHS	biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome;	LAMB2	LAMB2	1	1	Aiysha Abid
00314951	NS166	PubMed: Abid 2018, Journal: Abid 2018	no family history	F	-	Pakistan	-	-	0	-	-	NPHS	biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; in remission after Cyclosporine A	LAMB2	LAMB2	1	1	Aiysha Abid
00314952	NS144	PubMed: Abid 2018, Journal: Abid 2018	no family history	F	-	Pakistan	-	-	0	-	-	NPHS	steroid resistant nephrotic syndrome	LAMB2	LAMB2	1	1	Aiysha Abid
00314953	NS155	PubMed: Abid 2018, Journal: Abid 2018	no family history	-	-	Pakistan	-	-	0	-	-	NPHS	steroid resistant nephrotic syndrome	LAMB2	LAMB2	1	1	Aiysha Abid
00314954	NS1401	PubMed: Abid 2018, Journal: Abid 2018	family history	M	-	Pakistan	-	-	0	-	-	NPHS	biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; end stage renal disease	NPHS1	NPHS1	1	1	Aiysha Abid
00314955	NS304	PubMed: Abid 2018, Journal: Abid 2018	no family history	M	-	Pakistan	-	-	0	-	-	NPHS	biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; end stage renal disease	NPHS2	NPHS2	1	1	Aiysha Abid
00324103	B3174	PubMed: Schneider 2020, Journal: Schneider 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	-	Arab	-	0	-	-	NPHS	see paper; ..., steroid-resistant nephrotic syndrome	DAAM2	DAAM2	2	1	Johan den Dunnen
00324104	B1068	PubMed: Schneider 2020, Journal: Schneider 2020	-	M	yes	-	Arab	-	0	-	-	NPHS	see paper; ..., steroid-resistant nephrotic syndrome	DAAM2	DAAM2	1	1	Johan den Dunnen
00324105	HN-F629	PubMed: Schneider 2020, Journal: Schneider 2020	-	M	yes	Turkey	-	-	0	-	-	NPHS	see paper; ..., nephrotic syndrome	DAAM2	DAAM2	1	1	Johan den Dunnen
00324106	HN-F25	PubMed: Schneider 2020, Journal: Schneider 2020	-	M	yes	-	Arab	-	0	-	-	NPHS	see paper; ..., steroid-resistant nephrotic syndrome	DAAM2	DAAM2	1	1	Johan den Dunnen
00380226	DRAGoN_50	-	-	M	-	Viet Nam	ne	-	-	-	-	NPHS	-	COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, CUBN, NPHS1, NPHS2, TRPC6, WT1	COL4A5	1	1	Kar-Hui Ng
00380417	DRAGoN_49	-	-	-	-	Viet Nam	-	-	-	-	-	NPHS	-	COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, NPHS1, NPHS2	COL4A5	1	1	Kar-Hui Ng
00380418	DRAGoN_58	-	-	-	-	Viet Nam	-	-	-	-	-	NPHS	-	COL10A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2	COL4A5	1	1	Kar-Hui Ng
00380419	DRAGoN_6	-	-	-	-	Viet Nam	-	-	-	-	-	NPHS	-	COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2	COL4A5	1	1	Kar-Hui Ng
00380420	DRAGoN_62	-	-	?	-	Malaysia	-	-	-	-	-	NPHS	-	COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2	NPHS1	1	1	Kar-Hui Ng
00380421	DRAGoN_127	-	-	-	-	Singapore	-	-	-	-	-	NPHS	-	COL10A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2	NPHS2	2	1	Kar-Hui Ng
00380422	DRAGoN_5	-	-	-	-	Viet Nam	-	-	-	-	-	NPHS	-	COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2	NPHS2	2	1	Kar-Hui Ng

Legend

How to query

Global Variome shared LOVD