Nephrotic Syndrome, Type 11 (NPHS11)

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OMIM 57 616730 MedGen 42 C4225228 CN234872

MeSH 44 D009404 SNOMED-CT via HPO 69 258211005 29738008 236403004 25821008 52254009 119247004 252157006 255314001 433146000 44785005 77945009 204950001 more

UniProtKB/Swiss-Prot : ⁷⁵ Nephrotic syndrome 11: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life.

MalaCards based summary : Nephrotic Syndrome, Type 11, is also known as nphs11. An important gene associated with Nephrotic Syndrome, Type 11 is NUP107 (Nucleoporin 107). Affiliated tissues include kidney, and related phenotypes are proteinuria and nephrotic syndrome

OMIM : ⁵⁷ Nephrotic syndrome type 11 is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype (summary by Miyake et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (616730)

Clinical features from OMIM:

616730

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 11

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 11.