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Nephrotic syndrome

From SNPedia

Nephrotic syndrome (NPHS) is a nonspecific kidney disorder characterized by a number of signs of disease: proteinuria, hypoalbuminemia and edema. Nephrotic syndrome has many causes and, if classified based on them, may either be the result of a glomerular disease that can be either limited to the kidney, called primary nephrotic syndrome (primary glomerulonephritis), or, a condition that affects the kidney and other parts of the body, called secondary nephrotic syndrome.Wikipedia

Classification may be also be pathologically based, i.e. based on histology (rather than cause). When classified histologically, nephrotic syndrome will typically be classified as being either Minimal change disease (MCD), by far the most common type, or Focal segmental glomerulosclerosis (FSGS), Membranous glomerulonephritis (MN), or Membranoproliferative glomerulonephritis (MPGN).

Because NPHS and FSGS represent a wide spectrum of hereditary renal diseases of the podocyte, and due to the use of both terms in somewhat confusing ways over time in the medical literature, assignment of mutations to phenotypes can be problematic. In general, SNPedia follows the guidelines used by ClinVar and OMIM, based on how they were first designated in the literature. Based on this, a list of genes with SNPs associated with FSGS can be found on the FSGS page; a list of genes associated with NPHS follows on this page.

Category Full Name Gene Usual Inheritance Mode
NPHS1 Nephrotic syndrome, type 1 NPHS1 recessive
NPHS2 Nephrotic syndrome, type 2 NPHS2 recessive
NPHS3 Nephrotic syndrome, type 3 PLCE1 recessive
NPHS4 Nephrotic syndrome, type 4 WT1 recessive
NPHS5 Nephrotic syndrome, type 5 LAMB2 recessive
NPHS6 Nephrotic syndrome, type 6 PTPRO recessive
NPHS7 Nephrotic syndrome, type 7 DGKE recessive
NPHS8 Nephrotic syndrome, type 8 ARHGDIA recessive
NPHS9 Nephrotic syndrome, type 9 ADCK4 recessive