familial idiopathic steroid-resistant nephrotic syndrome
Findings
No curated finding names familial idiopathic steroid-resistant nephrotic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.
Definition from the Mondo Disease Ontology (MONDO:0019006), read 2026-09-29. CC BY 4.0.
Features
17 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.
- ProteinuriaHPOHP:0000093
- Obligate (100% of cases)
- EdemaHPOHP:0000969
- Very frequent (80% to 99% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Focal segmental glomerulosclerosisHPOHP:0000097
- Frequent (30% to 79% of cases)
- Periorbital edemaHPOHP:0100539
- Frequent (30% to 79% of cases)
- Stage 5 chronic kidney diseaseHPOHP:0003774
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Diffuse mesangial sclerosisHPOHP:0001967
- Occasional (5% to 29% of cases)
- FeverHPOHP:0001945
- Occasional (5% to 29% of cases)
- Foamy urineHPOHP:0031504
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- HypoalbuminemiaHPOHP:0003073
- Occasional (5% to 29% of cases)
Show the remaining 5
- IrritabilityHPOHP:0000737
- Occasional (5% to 29% of cases)
- Minimal change glomerulonephritisHPOHP:0012579
- Occasional (5% to 29% of cases)
- Respiratory tract infectionHPOHP:0011947
- Occasional (5% to 29% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very rare (1% to 4% of cases)
- PeritonitisHPOHP:0002586
- Very rare (1% to 4% of cases)
Genes
28 genes
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.
- ACTN4HGNC:166
- Supportive · Orphanet · Autosomal dominant · 2021
- ANKFY1HGNC:20763
- Supportive · Orphanet · Autosomal dominant · 2021
- ANLNHGNC:14082
- Supportive · Orphanet · Autosomal dominant · 2021
- ARHGAP24HGNC:25361
- Supportive · Orphanet · Autosomal dominant · 2021
- ARHGDIAHGNC:678
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (14)
- familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
- familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
- familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
- familial steroid-resistant nephrotic syndrome with sensorineural deafness
- focal segmental glomerulosclerosis 1
- nephrotic syndrome, type 10
- nephrotic syndrome, type 11
- nephrotic syndrome, type 12
- nephrotic syndrome, type 13
- nephrotic syndrome, type 2
- nephrotic syndrome, type 3
- nephrotic syndrome, type 6
- nephrotic syndrome, type 8
- nephrotic syndrome, type 9
Other names
1 name
Resolves to: familial idiopathic steroid-resistant nephrotic syndrome
- Also called
- familial idiopathic nephrotic syndrome