NEPHROTIC SYNDROME, TYPE 9

General Information (adopted from Orphanet):

Synonyms, Signs: NPHS9
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615573
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000093) Proteinuria 169 / 7739
2
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
3
(HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
4
(HPO:0000100) Nephrotic syndrome 83 / 7739
5
(HPO:0012588) Steroid-resistant nephrotic syndrome 2 / 7739
6
(HPO:0000969) Edema 117 / 7739
7
(HPO:0003073) Hypoalbuminemia 40 / 7739
8
(OMIM) Collapsing FSGS 1 / 7739
9
(OMIM) Effacement of the foot processes of the podocyte 1 / 7739
10
(OMIM) End-stage kidney disease 1 / 7739
11
(HPO:0003676) Progressive disorder 148 / 7739
12
(OMIM) Defective mitochondrial respiratory enzyme activity 1 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(OMIM) Decreased CoQ10 levels in lymphoblasts or fibroblasts 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually ...
Clinical Description OMIM Ashraf et al. (2013) reported 15 patients from 8 unrelated families with steroid-resistant nephrotic syndrome. Disease onset was typically between ages 10 and 20 years, although several had earlier onset, including 1 patient with onset in the first ...
Molecular genetics OMIM In 15 patients from 8 unrelated families with steroid-resistant nephrotic syndrome, Ashraf et al. (2013) identified 11 different mutations in the ADCK4 gene (see, e.g., 615567.0001-615567.0007). All mutations occurred in the homozygous or compound heterozygous state and segregated ...