focal segmental glomerulosclerosis 7
Findings
No curated finding names focal segmental glomerulosclerosis 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014451), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 9 of 18 reported patients
- Renal hypoplasiaHPOHP:0000089
- 1 of 18 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- Nephrotic syndromeHPOHP:0000100
- ProteinuriaHPOHP:0000093
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.
- PAX2HGNC:8616
- Definitive · ClinGen · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: focal segmental glomerulosclerosis 7
- Also called
- focal segmental glomerulosclerosis caused by mutation in PAX2focal segmental glomerulosclerosis type 7FSGS7PAX2 focal segmental glomerulosclerosis