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Article

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2006

Franceschini Nora, North Kari E, Kopp Jeffrey B, McKenzie Louise, Winkler Cheryl

Abstract excerpt

Nephrotic syndrome, characterized by edema, proteinuria, hyperlipidemia and low serum albumin, is a manifestation of kidney disease involving the glomeruli. Nephrotic syndrome may be caused by primary kidney disease such as focal segmental glomerulosclerosis. Mutations in the podocin gene, NPHS2, have been shown in familial and sporadic forms of steroid-resistant nephrotic syndrome, including focal segmental...

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Share to Amino Acid Substitution
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Glomerulosclerosis, Focal Segmental

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Source

Identifiers

PMID: 16481888
DOI: 10.1097/01.gim.0000200947.09626.1c

Genes

NPHS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.PMID 16481888Read ↗

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