Nephrotic Syndrome, Type 11 (NPHS11)

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Disease Ontology 12 DOID:0080385 OMIM 58 616730 MeSH 45 D009404

MedGen 43 C4225228 CN234872 SNOMED-CT via HPO 70 111406002 119247004 13644009 162294008 166830008 17268007 195021004 224958001 229721007 236403004 236407003 248200007 252157006 253549006 255314001 25821008 258211005 27272007 29164008 29738008 30288003 32003007 32958008 398206004 398302004 399020009 433146000 44785005 52254009 62250003 62415009 63567004 68779003 77945009 87979003 more

UniProtKB/Swiss-Prot : ⁷⁶ 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. Some patients with NPHS11 may have extrarenal manifestations, including microcephaly, delayed development, and short stature.

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 abnormal facial shape and dilated cardiomyopathy

Disease Ontology : ¹² A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has material basis in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.

OMIM : ⁵⁸ 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.