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.
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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 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 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 EMP2 EMP2 1 1 Marianne Vos (LOVD-team)
00018452 - - - - - - - - 0 - - NPHS NPHS1 COL4A3, NPHS1 3 1 Elisabet Ars Criach
00018453 - - - - - - - - 0 - - NPHS NPHS2 COL4A3, NPHS2 3 1 Elisabet Ars Criach
00018845 - - - - - - - - 0 - - NPHS LAMB2, NPHS1 LAMB2, NPHS1 3 1 Elisabet Ars Criach
00019409 - - - - - - - - 0 - - NPHS CUBN, NPHS1 CUBN, NPHS1 3 1 Elisabet Ars Criach
00019411 - - - - - - - - 0 - - NPHS NPHS1, PLCE1 NPHS1, PLCE1 3 1 Elisabet Ars Criach
00019412 - - - - - - - - 0 - - NPHS NPHS2, PLCE1 NPHS2, PLCE1 2 1 Elisabet Ars Criach
00019413 - - - - - - - - 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 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 CRB2 CRB2 2 1 Johan den Dunnen
00032336 - PubMed: Ebarasi 2015, Journal: Ebarasi 2015 patient, unaffected heterozygous carrier parents - yes Turkey - - 0 - - NPHS CRB2 CRB2 1 1 Johan den Dunnen
00032337 - PubMed: Ebarasi 2015, Journal: Ebarasi 2015 patient, unaffected heterozygous carrier parents - yes - European (Western) - 0 - - NPHS CRB2 CRB2 1 1 Johan den Dunnen
00038646 - - - M yes Greece - - 0 - - NPHS NPHS1, NPHS2, PLCE1, WT1 PLCE1 1 1 Irene (Eirini) Fylaktou
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