Disease #05396 (FSGS (glomerulosclerosis, segmental, focal (FSGS)))

Official abbreviation FSGS
Name glomerulosclerosis, segmental, focal (FSGS)
OMIM ID -
Inheritance -
Individuals reported having this disease 21
Phenotype entries for this disease 20
Associated with 1 gene PAX2
Associated tissues -
Disease features -
Remarks -
Date created 2018-02-16 17:34:10 +01:00 (CET)
Date last edited N/A


Individuals

21 entries on 1 page. Showing entries 1 - 21.
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00153700 - PubMed: Malone 2014, Journal: Malone 2014 two affected siblings (2F) F - United States white - - - - FSGS 8y-diagnosed, progressed to ESRF within 4y; hearing loss (HP:0000365); no ocular changes; 12y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A3 COL4A3 2 1 Judy Savige
00153703 - PubMed: Malone 2014, Journal: Malone 2014 - F - United States white - - - - FSGS no hearing loss (-HP:0000365); no ocular changes; no GBM pathology ; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A3 COL4A3 1 1 Judy Savige
00153762 - PubMed: Malone 2014, Journal: Malone 2014 - F - United States white - - - - FSGS hearing loss (HP:0000365); no ocular changes; GBM pathology thinning; 60y-renal failure (HP:0000083); hematuria (HP:0000790); no proteinuria (-HP:0000093) COL4A3 COL4A3 1 1 Judy Savige
00153769 - PubMed: Lin 2014, Journal: Lin 2014 hematuria and proteinuria in 30s, Focal and segmental glomerulosclerosis at 39, CKD stage 4 at 45. M - China Chinese - - - - FSGS no hearing loss (-HP:0000365); no ocular changes; 45y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A3 COL4A3, FN1 2 1 Judy Savige
00153832 - PubMed: Gast 2016, Journal: Gast 2016 - M - United Kingdom (Great Britain) - - - - - FSGS - COL4A3 COL4A3 1 1 Judy Savige
00153833 - PubMed: Malone 2014, Journal: Malone 2014 - M - United States white - - - - FSGS no hearing loss (-HP:0000365); no ocular changes; 42y-renal failure (HP:0000083) COL4A3 COL4A3 1 1 Judy Savige
00153843 - PubMed: Malone 2014, Journal: Malone 2014 - M - United States white - - - - FSGS no hearing loss (-HP:0000365); no ocular changes; GBM pathology thickening; 37y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A3 COL4A3 1 1 Judy Savige
00153855 - PubMed: Malone 2014, Journal: Malone 2014 - F - United States African American - - - - FSGS no hearing loss (-HP:0000365); no ocular changes; GBM pathology thickened; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A4 COL4A4 1 1 Judy Savige
00153935 - {PMID:Gast 201610.1093/ndt/gfv325}, Journal: Gast 2016 Submitter considered pathogenic F - United Kingdom (Great Britain) - - - - - FSGS - COL4A4 COL4A4 1 1 Judy Savige
00154053 - PubMed: Gast 2016, Journal: Gast 2016 - M - United Kingdom (Great Britain) - - - - - FSGS - COL4A5 COL4A5 1 1 Judy Savige
00154198 - PubMed: Gast 2016, Journal: Gast 2016 - M - United Kingdom (Great Britain) - - - - - FSGS - COL4A5 COL4A5 1 1 Judy Savige
00315256 - PubMed: Barua 2014 Family FG-BF individual IV-2 in published manuscript M - - white - - - - FSGS focal segmental glomerulosclerosis; focal segmental glomerulosclerosis, echogenic kidneys PAX2 PAX2 1 1 Matthew Bower
00315257 - PubMed: Barua 2014 Family FG-BF in published manuscript. Individual III-7 (maternal uncle of proband) M - - white - - - - FSGS focal segmental glomerulosclerosis; focal segmental glomerulosclerosis PAX2 PAX2 1 1 Matthew Bower
00315260 - PubMed: Barua 2014 Ambiguous in article- called family FG-DO and FG-DG. Individual III-1 in family DG in supplemental online data. Family FG-DO in printed article. F - United States African American - - - - FSGS focal segmental glomerulosclerosis; proteinuria PAX2 PAX2 1 1 Matthew Bower
00315261 - PubMed: Barua 2014 Family FG-EQ in publication. Individual III-8 in published report. F - - European - - - - FSGS focal segmental glomerulosclerosis, normal hearing; kidney periodic acid–schiff staining revealed several segmentally sclerosed glomeruli, electron microscopy showed diffuse podo- cytopathy as evidenced by degenerative changes, microvillous transformation, vacuolization, and lysosome accumulation but with focal foot process effacement PAX2 PAX2 1 1 Matthew Bower
00315262 - PubMed: Barua 2014 Family FG-EQ; Individual III-9 in published report F - - - - - - - FSGS focal segmental glomerulosclerosis PAX2 PAX2 1 1 Matthew Bower
00315263 - PubMed: Barua 2014 Family FG-EQ; Individual III-10 in published report F - - - - - - - FSGS focal segmental glomerulosclerosis PAX2 PAX2 1 1 Matthew Bower
00315265 - PubMed: Barua 2014 - M - - - - - - - FSGS focal segmental glomerulosclerosis PAX2 PAX2 1 1 Matthew Bower
00315267 - PubMed: Barua 2014 Individual II-2 in supplemental information pedigree. Three other affected family members reported, but not tested. M - - Middle East - - - - FSGS focal segmental glomerulosclerosis PAX2 PAX2 1 1 Matthew Bower
00315268 - PubMed: Barua 2014 individual II-1 in supplemental info. Four other affected family members not tested. F - India East Indian - - - - FSGS focal segmental glomerulosclerosis PAX2 PAX2 1 1 Matthew Bower
00385699 - - - F - Morocco - - - - - FSGS - - TTC21B 1 1 Martina Marangoni
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