Features include always present findings: Nephrotic syndrome, Hypoalbuminemia, Protein in the urine (proteinuria), and Diffuse mesangial sclerosis; and common findings: Stage 5 chronic kidney disease and Generalized edema. 13 total HPO annotations.

ARHGDIA encodes Rho GDP dissociation inhibitor alpha (204 aa). Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Highest expression in Cells Cultured fibroblasts (430.8 TPM) and Cells EBV-transformed lymphocytes (381.0 TPM).

Nephrotic syndrome, type 8 has been associated with mutations in the ARHGDIA gene on chromosome 17.

The ARHGDIA protein participates in CDC42 GDIs block activation of CDC42, GDIs block activation of RHOA, and RAC1 GDIs block activation of RAC1 pathways.

ARHGDIA is classified as a druggable target with score 8.7.

Genetic testing for ARHGDIA is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 8 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 2 common features.

No clinical trials have been registered for nephrotic syndrome, type 8.

60 publications have been identified in PubMed for nephrotic syndrome, type 8. Research spans Epidemiology / Natural History (30%), Basic Science / Preclinical (22%), and Case Report / Case Series (15%).