NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia
0.110 Biomarker disease HPO
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia
0.110 Biomarker disease BEFREE We report a Caucasian boy of Italian descent with congenital nephrotic syndrome of the Finnish type (NPHS1, CNF, MIM 256300) who developed recurrence of proteinuria and hypoalbuminemia on the seventh post-operative day following living related renal transplantation from his paternal aunt. 16518627 2006