focal segmental glomerulosclerosis 9
Findings
No curated finding names focal segmental glomerulosclerosis 9 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 CRB2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014539), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
2 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.
- Focal segmental glomerulosclerosisHPOHP:0000097
- 4 of 4 reported patients
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 5 of 5 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.
- CRB2HGNC:18688
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: focal segmental glomerulosclerosis 9
- Also called
- CRB2 focal segmental glomerulosclerosisfocal segmental glomerulosclerosis caused by mutation in CRB2focal segmental glomerulosclerosis type 9FSGS9