Details of Disease

General Information of Disease (ID: DISY3YH1)

Disease Name Karyomegalic interstitial nephritis
Synonyms interstitial nephritis, karyomegalic; systemic karyomegaly; karyomegalic interstitial nephritis; FAN1 interstitial nephritis; kin; KMIN; interstitial nephritis caused by mutation in FAN1
Definition Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.
Disease Hierarchy
DISECBR1: Hereditary nephritis
DISKQGND: Interstitial nephritis
DISY3YH1: Karyomegalic interstitial nephritis
Disease Identifiers
MONDO ID
MONDO_0013898
UMLS CUI
C3553774
OMIM ID
614817
MedGen ID
766688
Orphanet ID
401996
SNOMED CT ID
782738008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FAN1 OT1LM1HZ Strong Autosomal recessive [1]
KIN OTB2DNQU Strong Biomarker [2]
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References

1 Karyomegalic nephropathy: an uncommon cause of progressive renal failure. Nephrol Dial Transplant. 2002 Nov;17(11):1914-20. doi: 10.1093/ndt/17.11.1914.
2 Critical review of renal tubule karyomegaly in non-clinical safety evaluation studies and its significance for human risk assessment.Crit Rev Toxicol. 2018 Aug;48(7):575-595. doi: 10.1080/10408444.2018.1503641. Epub 2018 Oct 2.