familial steroid-resistant nephrotic syndrome with sensorineural deafness
MONDO:0013836Mondo
Findings
No curated finding names familial steroid-resistant nephrotic syndrome with sensorineural deafness yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Rapidly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 11 of 12 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 7 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 10 of 12 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 8 of 12 reported patients · Juvenile onset
- SeizureHPOHP:0001250
- 2 of 12 reported patients
- Diffuse mesangial sclerosisHPOHP:0001967
- 1 of 8 reported patients
- Kidney stoneHPOHP:0000787
- 1 of 12 reported patients
- 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.
- COQ6HGNC:20233
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: familial steroid-resistant nephrotic syndrome with sensorineural deafness
- Also called
- coenzyme Q10 deficiency, primary, type 6