nephrotic syndrome, type 9
MONDO:0014257Mondo
Findings
No curated finding names nephrotic syndrome, type 9 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 COQ8B gene.
Definition from the Mondo Disease Ontology (MONDO:0014257), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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 9 reported patients
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 15 of 15 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 12 of 13 reported patients
- Glomerular sclerosisHPOHP:0000096
- 1 of 15 reported patients
- EdemaHPOHP:0000969
- HypoalbuminemiaHPOHP:0003073
- 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.
- COQ8BHGNC:19041
- Definitive · Ambry Genetics · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: nephrotic syndrome, type 9
- Also called
- COQ8B nephrotic syndromenephrotic syndrome caused by mutation in COQ8B