NEPHROTIC SYNDROME, TYPE 2

General Information (adopted from Orphanet):

Synonyms, Signs: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NPHS2
SRN1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 600995
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000093) Proteinuria 169 / 7739
2
(HPO:0000100) Nephrotic syndrome 83 / 7739
3
(HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
4
(HPO:0003077) Hyperlipidemia 37 / 7739
5
(HPO:0000969) Edema 117 / 7739
6
(HPO:0003073) Hypoalbuminemia 40 / 7739
7
(OMIM) Mesangial IgM deposition 1 / 7739
8
(OMIM) Minimal change disease (lipoid nephrosis) on renal biopsy 2 / 7739
9
(OMIM) Loss of podocyte foot processes 2 / 7739
10
(OMIM) Mesangial cell proliferation 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial ...
Clinical Description OMIM Naruse et al. (1980) reported 2 sons, of first-cousin parents, who developed the nephrotic syndrome at ages 14 and 15 years. The disorder was resistant to treatment with corticosteroid. Both had progressive renal failure, and renal biopsy in ...
Molecular genetics OMIM In 14 of 16 families with steroid-resistant nephrotic syndrome mapping to chromosome 1, 10 of which were previously reported (Fuchshuber et al., 1995; Fuchshuber et al., 1996), Boute et al. (2000) identified 10 different NPHS2 mutations (604766.0001-604766.0010), comprising ...
Population genetics OMIM NPHS2 is the most common known form of inherited steroid-resistant nephrotic syndrome, accounting for 45 to 55% of familial forms and 8 to 20% of sporadic disease (Caridi et al., 2010).