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Features include always present findings: Tubulointerstitial fibrosis, Genu valgum, and Hypophosphatemic rickets; and very common findings: Stage 5 chronic kidney disease. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 3 | Stage 5 chronic kidney disease, Tubulointerstitial fibrosis, Protein in the urine (proteinuria) |
NDUFAF6 encodes NADH:ubiquinone oxidoreductase complex assembly factor 6 (333 aa). Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1 Highest expression in Brain Cerebellar Hemisphere (7.9 TPM) and Thyroid (7.7 TPM).
Fanconi renotubular syndrome 5 is associated with mutations in the NDUFAF6 gene on chromosome 8.
NDUFAF6 is classified as a druggable target (Druggable Genome category) with score 0.0.
Genetic testing for NDUFAF6 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Fanconi renotubular syndrome 5 has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 1 very common feature, 1 common feature.
No clinical trials have been registered for Fanconi renotubular syndrome 5.
79 publications have been identified in PubMed for Fanconi renotubular syndrome 5. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 33 | 42% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Fanconi renotubular syndrome 5
Lungs and breathing |
3 |
Lung adenocarcinoma, Emphysema, Lung scarring (pulmonary fibrosis) |
Metabolism | 1 | Hyperchloremic metabolic acidosis |
Heart and blood vessels | 1 | Hypertension |
Bones and joints | 1 | Hypophosphatemic rickets |
Age of onset: adolescence, adulthood.
Laboratory research
15 |
19% |
Disease patterns and progression | 11 | 14% |
Research summaries | 8 | 10% |
Clinical study results | 5 | 6% |
Testing and diagnosis research | 4 | 5% |
New treatment approaches | 2 | 3% |
Other research | 1 | 1% |
Chen M (2026). [PMID: 41772674](https://pubmed.ncbi.nlm.nih.gov/41772674/). *Journal of medical case reports*. [Case Report / Case Series]
Elsherbini A (2026). [PMID: 41689580](https://pubmed.ncbi.nlm.nih.gov/41689580/). *J Hand Surg Am*. [Review / Meta-Analysis]
Yoshida R (2026). [PMID: 41623299](https://pubmed.ncbi.nlm.nih.gov/41623299/). *Kidney medicine*. [Case Report / Case Series]
Suthanthararajan S (2026). [PMID: 42130929](https://pubmed.ncbi.nlm.nih.gov/42130929/). *Eur J Case Rep Intern Med*. [Case Report / Case Series]
Leshchynska I (2026). [PMID: 41851260](https://pubmed.ncbi.nlm.nih.gov/41851260/). *Eur J Hum Genet*. [Case Report / Case Series]
Tenney L (2026). [PMID: 41383448](https://pubmed.ncbi.nlm.nih.gov/41383448/). *Chemical science*. [Basic Science / Preclinical]
Srikanthan M (2026). [PMID: 41274643](https://pubmed.ncbi.nlm.nih.gov/41274643/). *Transplantation and cellular therapy*. [Epidemiology / Natural History]
Del Prete D (2026). [PMID: 41480250](https://pubmed.ncbi.nlm.nih.gov/41480250/). *Case reports in nephrology and dialysis*. [Case Report / Case Series]
Pegoraro F (2026). [PMID: 41881068](https://pubmed.ncbi.nlm.nih.gov/41881068/). *JCO Precis Oncol*. [Review / Meta-Analysis]
Takayanagi S (2026). [PMID: 41783431](https://pubmed.ncbi.nlm.nih.gov/41783431/). *Kidney medicine*. [Basic Science / Preclinical]