Disease #00399

Official abbreviation NPHS
Name nephrotic syndrome (NPHS)
OMIM ID -
Individuals reported having this disease 30
Phenotype entries for this disease 28
Associated with 12 genes ADCK4, ARHGDIA, DGKE, EMP2, LAMB2, NPHS1, NPHS2, NUP205, NUP93, PLCE1, PTPRO, WT1
Associated tissues -
Disease features -
Remarks -


Individuals

30 entries on 1 page. Showing entries 1 - 30.
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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 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 Journal: Abid 2018 - M no (Pakistan) - 01y 0 yes no response to cyclosporine therapy NPHS solated steroid resistnt 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
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