NEPHROTIC SYNDROME, TYPE 4

General Information (adopted from Orphanet):

Synonyms, Signs: NPHS4
Number of Symptoms 4
OrphanetNr:
OMIM Id: 256370
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000100) Nephrotic syndrome 83 / 7739
2
(HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
3
(HPO:0000083) Renal insufficiency 232 / 7739
4
(HPO:0001967) Diffuse mesangial sclerosis 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can ...
Clinical Description OMIM Mendelsohn et al. (1982) reported 5 children in 2 related Israeli Arab families with a clinical picture characterized by onset in infancy of asymptomatic proteinuria with subsequent development of the nephrotic syndrome and progression to renal failure and ...
Molecular genetics OMIM Of 10 patients with nephrotic syndrome associated with diffuse mesangial sclerosis on renal biopsy, 10 with DDS, and 4 with only urogenital abnormalities and/or Wilms tumor, Jeanpierre et al. (1998) identified heterozygous mutations in the WT1 gene in ...