NEPHROTIC SYNDROME, TYPE 3

General Information (adopted from Orphanet):

Synonyms, Signs: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3
NPHS3
Number of Symptoms 10
OrphanetNr:
OMIM Id: 610725
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:0000093) Proteinuria 169 / 7739
3
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
4
(HPO:0001967) Diffuse mesangial sclerosis 11 / 7739
5
(HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
6
(HPO:0000969) Edema 117 / 7739
7
(HPO:0003073) Hypoalbuminemia 40 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(HPO:0011463) Childhood onset 65 / 7739
10
(HPO:0003676) Progressive disorder 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006).

...

Clinical Description OMIM Hinkes et al., (2006) described 14 patients from 7 unrelated families with nephrotic syndrome. Five families were of Turkish origin and consanguineous, 1 was of Israeli origin and consanguineous, and the last was of Turkish and Russian origin ...
Molecular genetics OMIM Hinkes et al. (2006) analyzed the PLCE1 gene in 7 consanguineous kindreds with early-onset nephrotic syndrome and homozygosity for microsatellites at the NPHS3 locus on chromosome 10q23.32-q24.1 and identified 7 different homozygous mutations. All 12 affected individuals from ...