karyomegalic interstitial nephritis
Findings
No curated finding names karyomegalic interstitial nephritis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013898), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive
HPO, annotations 2026-09-02
Features
10 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.
- NephronophthisisHPOHP:0000090
- 1 of 1 reported patient
- Renal interstitial fibrosisHPOHP:0032948
- 1 of 1 reported patient
- Renal tubular cystHPOHP:0041050
- 1 of 1 reported patient
- Tubulointerstitial nephritisHPOHP:0001970
- 9 of 9 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 5 of 9 reported patients
- GlycosuriaHPOHP:0003076
- 5 of 9 reported patients
- ProteinuriaHPO
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.
- FAN1HGNC:29170
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: karyomegalic interstitial nephritis
- Also called
- FAN1 interstitial nephritisinterstitial nephritis caused by mutation in FAN1KINKMINsystemic karyomegaly