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familial steroid-resistant nephrotic syndrome with sensorineural deafness - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial steroid-resistant nephrotic syndrome with sensorineural deafness

MONDO:0013836

Also known as:coenzyme Q10 deficiency, primary, type 6COQ10D6coenzyme Q10 deficiency, primary, 6

Overview

GeneticsAutosomal recessive · COQ6 (chr 14)

OnsetJUVENILE

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, and Inner ear hearing loss (sensorineural hearing impairment); and common findings: Stage 5 chronic kidney disease. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Protein in the urine (proteinuria)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COQ6 encodes coenzyme Q6, monooxygenase (468 aa). FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis. Highest expression in Adrenal Gland (33.5 TPM) and Testis (32.4 TPM).

Familial steroid-resistant nephrotic syndrome with sensorineural deafness is associated with mutations in the COQ6 gene on chromosome 14.

The COQ6 protein participates in COQ6 hydroxylates DHB, Unknown enzyme hydroxylates DMPhOH, and Ubiquinol biosynthesis pathways.

COQ6 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for COQ6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial steroid-resistant nephrotic syndrome with sensorineural deafness.

10 publications have been identified in PubMed for familial steroid-resistant nephrotic syndrome with sensorineural deafness. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (22%).

Recent Publications

Distelmaier F (2026). [PMID: 40929079](https://pubmed.ncbi.nlm.nih.gov/40929079/). *Brain*. [Case Report / Case Series]
Hahn W (2026). [PMID: 41716779](https://pubmed.ncbi.nlm.nih.gov/41716779/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Torra R (2025). [PMID: 40115110](https://pubmed.ncbi.nlm.nih.gov/40115110/). *Clin Kidney J*. [Review / Meta-Analysis]
Wongkittichote P (2025). [PMID: 41199775](https://pubmed.ncbi.nlm.nih.gov/41199775/). *JIMD Rep*. [Basic Science / Preclinical]
Shi G (2025). [PMID: 40634618](https://pubmed.ncbi.nlm.nih.gov/40634618/). *Nature*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614650

Orphanet

European rare disease database

Orphanet:280406

GARD

Genetic and Rare Diseases Info Center

GARD:17295

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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familial steroid-resistant nephrotic syndrome with sensorineural deafness

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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