Symbol
| SRN7
|
Location
| Xq22.3
|
Name
|
steroid-resistant nephrotic syndrome 7 |
Corresponding gene
|
TBC1D8B
|
Main clinical features
|
X-linked podocytopathy
early-onset steroid-resistant nephrotic syndrome with focal and segmental glomerulosclerosis
leading to end-stage renal disease (ESRD) in childhood or young adulthood |
Genetic determination
| sex linked |
Function/system disorder
| kidney and urinary tract |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
| abnormal protein/loss of function
|  
| |