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GENATLAS PHENOTYPE

last update : 26-01-2015

Symbol	SRN5
Location	9q33.2
Name	steroid-resistant nephrotic syndrome 5
Corresponding gene	CRB2
Main clinical features	association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, steroid-resistant, progressing to end-stage renal failure
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)

CRB2 mutations result in loss of function and therefore constitute causative mutations leading to Nephrotic syndrome (PMID: 25557779))