karyomegalic interstitial nephritis (MONDO:0013898)

[ValWood]

Mondo term (ID and Label)

karyomegalic interstitial nephritis (MONDO:0013898)

Suggested revision and reasons

is_a "DNA repair disease" (MONDO:0021190

Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1.
Airik M, Phua YL, Huynh AB, McCourt BT, Rush BM, Tan RJ, Vockley J, Murray SL, Dorman A, Conlon PJ, Airik R.
Kidney Int. 2022 Nov;102(5):1042-1056. doi: 10.1016/j.kint.2022.07.003. Epub 2022 Aug 2.
PMID: 35931300 

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Zhou W, et al. Nat Genet. 2012. PMID: 22772369

Karyomegalic interstitial nephritis and DNA damage-induced polyploidy in Fan1 nuclease-defective knock-in mice.
Lachaud C, Slean M, Marchesi F, Lock C, Odell E, Castor D, Toth R, Rouse J.
Genes Dev. 2016 Mar 15;30(6):639-44. doi: 10.1101/gad.276287.115.
PMID: 26980188

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