Symbol
| SRN1
|
Location
| 1q25.2
|
Name
|
steroid-resistant nephrotic syndrome 1 |
Other name(s)
|
steroid-resistant focal segmental glomerulosclerosis
nephrotic syndrome, type 2 |
Corresponding gene
|
NPHS2
|
Other symbol(s)
| FSGS, NPHS2
|
Main clinical features
|
focal segmental glomerulosclerosis or diffuse mesangial proliferation, characterized to early chilhood onset of proteinuria, rapid progression to end-stage renal disease, with absence of recurrence after renal transplantation and absence of extra-renal signs |
Genetic determination
| autosomal recessive |
Related entries
| including adolescent onset familial focal segment glomerulosclerosis
|
Function/system disorder
| kidney and urinary tract |
Type
| disease
|