NEPHROTIC SYNDROME, TYPE 8

General Information (adopted from Orphanet):

Synonyms, Signs: NPHS8
Number of Symptoms 16
OrphanetNr:
OMIM Id: 615244
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal 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:0001967) Diffuse mesangial sclerosis 11 / 7739
3
(HPO:0012577) Thin glomerular basement membrane 2 / 7739
4
(HPO:0000093) Proteinuria 169 / 7739
5
(HPO:0012622) Chronic kidney disease 32 / 7739
6
(HPO:0000969) Edema 117 / 7739
7
(HPO:0003073) Hypoalbuminemia 40 / 7739
8
(HPO:0003623) Neonatal onset 22 / 7739
9
(OMIM) Thinning of the glomerular basement membrane 5 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Hypercellularity 1 / 7739
12
(OMIM) Swollen endothelial cells 1 / 7739
13
(OMIM) Abnormal glomeruli seen on biopsy 1 / 7739
14
(OMIM) Immature podocytes 1 / 7739
15
(OMIM) Foot process effacement 1 / 7739
16
(HPO:0003678) Rapidly progressive 33 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gupta et al. (2013) reported 2 sisters, born of consanguineous Pakistani parents, with congenital nephrotic syndrome. Both girls presented in the first weeks of life with severe proteinuria, hypoalbuminemia, and generalized edema. Renal biopsy of 1 patient showed ...
Molecular genetics OMIM In 2 sisters, born of consanguineous Pakistani parents, with congenital nephrotic syndrome type 8, Gupta et al. (2013) identified a homozygous 3-bp in-frame deletion in the ARHGDIA gene (601925.0001). The mutation was found by whole-exome sequencing, confirmed by ...