Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.
Features include always present findings: Tubulointerstitial nephritis, Renal interstitial fibrosis, Nephronophthisis, and Renal tubular cyst; and common findings: Glycosuria, Protein in the urine (proteinuria), and Elevated circulating hepatic transaminase concentration. 11 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 8 | Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Renal interstitial fibrosis |
FAN1 encodes FANCD2 and FANCI associated nuclease 1 (1,017 aa). Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Highest expression in Brain Cerebellum (20.5 TPM) and Testis (18.8 TPM).
Karyomegalic interstitial nephritis is associated with mutations in the FAN1 gene on chromosome 15.
The FAN1 protein participates in Fanconi Anemia Pathway pathway.
FAN1 is classified as a druggable target (Dna Repair, Enzyme, and Myotubularin Related Protein Phosphatase categories) with score 0.0.
Genetic testing for FAN1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for karyomegalic interstitial nephritis.
13 publications have been identified in PubMed for karyomegalic interstitial nephritis. Research spans Case Report / Case Series (77%), Epidemiology / Natural History (15%), and Review / Meta-Analysis (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 10 | 77% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Lab test results | 2 | Elevated circulating hepatic transaminase concentration, Elevated creatinine (kidney function marker) (elevated circulating creatinine concentration) |
Digestive system | 1 | Elevated circulating hepatic transaminase concentration |
Disease patterns and progression
2 |
15% |
Research summaries | 1 | 8% |
Clince M (2026). [PMID: 41565023](https://pubmed.ncbi.nlm.nih.gov/41565023/). *Kidney international*. [Case Report / Case Series]
Aldana S (2026). [PMID: 42139177](https://pubmed.ncbi.nlm.nih.gov/42139177/). *Nephron*. [Case Report / Case Series]
Kwon L (2025). [PMID: 40109725](https://pubmed.ncbi.nlm.nih.gov/40109725/). *Frontiers in medicine*. [Case Report / Case Series]
Shelest O (2025). [PMID: 41224322](https://pubmed.ncbi.nlm.nih.gov/41224322/). *Kidney research and clinical practice*. [Case Report / Case Series]
Ozcan SG (2025). [PMID: 40529986](https://pubmed.ncbi.nlm.nih.gov/40529986/). *Clinical nephrology. Case studies*. [Case Report / Case Series]
Kita Y (2025). [PMID: 38955949](https://pubmed.ncbi.nlm.nih.gov/38955949/). *CEN case reports*. [Case Report / Case Series]
Kita Y (2025). [PMID: 39133393](https://pubmed.ncbi.nlm.nih.gov/39133393/). *CEN case reports*. [Case Report / Case Series]
Walia GK (2025). [PMID: 38847221](https://pubmed.ncbi.nlm.nih.gov/38847221/). *Indian journal of pathology & microbiology*. [Review / Meta-Analysis]
Guzel Dirim M (2024). [PMID: 39294548](https://pubmed.ncbi.nlm.nih.gov/39294548/). *Nephrology (Carlton, Vic.)*. [Case Report / Case Series]
Martelli Guerrero X (2024). [PMID: 39510891](https://pubmed.ncbi.nlm.nih.gov/39510891/). *Nefrologia*. [Epidemiology / Natural History]
AI-curated news mentioning karyomegalic interstitial nephritis
Updated Sep 11, 2026
A recent study published in PubMed highlights a case of biopsy-proven dengue virus-associated IgA nephropathy and interstitial nephritis, with viral RNA detected in kidney tissue. This research may provide insights into the renal complications associated with dengue virus infection.
A recent study highlights Histoplasma capsulatum as a rare cause of interstitial nephritis, expanding the understanding of this fungal pathogen's impact on kidney health. This discovery may influence diagnostic approaches for patients presenting with unexplained kidney issues.