Results for "nephropathy due to cfhr5 deficiency": 11 genes

Name

CFHR5 Gene

complement factor H-related 5

This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]

OPHLC Gene

Omphalocele due to duplication of 1p31.3

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

SM2 Gene

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection

DIANPH Gene

diabetic nephropathy

HNFJ3 Gene

Hyperuricemic nephropathy, familial juvenile, 3

NEDE Gene

nephropathy, progressive, with deafness

IGAN2 Gene

IgA nephropathy, susceptibility to, 2

MBNP Gene

?Membranous nephropathy, susceptibility to

IGAN1 Gene

IgA nephropathy

HNP1 Gene

Hypertensive nephropathy