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

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