nephrotic syndrome, type 8
Findings
No curated finding names nephrotic syndrome, type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.
Definition from the Mondo Disease Ontology (MONDO:0014099), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Rapidly progressive
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diffuse mesangial sclerosisHPOHP:0001967
- 1 of 1 reported patient
- HypoalbuminemiaHPOHP:0003073
- 2 of 2 reported patients
- Nephrotic syndromeHPOHP:0000100
- 2 of 2 reported patients
- ProteinuriaHPOHP:0000093
- 2 of 2 reported patients
- Generalized edemaHPOHP:0007430
- 1 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARHGDIAHGNC:678
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: nephrotic syndrome, type 8
- Also called
- ARHGDIA nephrotic syndromenephrotic syndrome caused by mutation in ARHGDIA