KEGG   DISEASE: Karyomegalic interstitial nephritis
Entry
H02577                      Disease                                
Name
Karyomegalic interstitial nephritis
Description
Karyomegalic interstitial nephritis (KMIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria. It has been identified that mutations in FAN1 cause KMIN. The FAN1 protein has nuclease activity and acts in DNA interstrand cross-link (ICL) repair within the Fanconi anemia pathway.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   Renal tubulo-interstitial diseases
    GB55  Chronic tubulo-interstitial nephritis
     H02577  Karyomegalic interstitial nephritis
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06508  Interstrand crosslink repair
   H02577  Karyomegalic interstitial nephritis
Pathway
hsa03460  Fanconi anemia pathway
Network
nt06508 Interstrand crosslink repair
Gene
FAN1 [HSA:22909] [KO:K15363]
Other DBs
ICD-11: GB55.Y
MeSH: D009394
OMIM: 614817
Reference
PMID:22772369
  Authors
Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F
  Title
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
  Journal
Nat Genet 44:910-5 (2012)
DOI:10.1038/ng.2347
Reference
PMID:32111193
  Authors
Law S, Gillmore J, Gilbertson JA, Bass P, Salama AD
  Title
Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis.
  Journal
BMC Nephrol 21:74 (2020)
DOI:10.1186/s12882-020-01733-9
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