Disease #00399

Official abbreviation NPHS
Name nephrotic syndrome (NPHS)
OMIM ID -
Individuals reported having this disease 15
Phenotype entries for this disease 13
Associated with 2 genes EMP2, NPHS1
Associated tissues -
Disease features -
Remarks -


Individuals

15 entries on 1 page. Showing entries 1 - 15.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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
Legend