KEGG   DISEASE: NephronophthisisHelp
Entry
H00537                      Disease                                

Name
Nephronophthisis
  Subgroup
Senior-Loken syndrome [DS:H00538]
Description
Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The outcome of these diseases is end-stage renal disease. Multiple signaling pathways are altered because of mutated cilia genes.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the urinary system
   H00537  Nephronophthisis
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   Cystic or dysplastic kidney disease
    GB83  Nephronophthisis
     H00537  Nephronophthisis
BRITE hierarchy
Gene
(NPHP1) NPHP1 [HSA:4867] [KO:K19657]
(NPHP2) INVS [HSA:27130] [KO:K19626]
(NPHP3) NPHP3 [HSA:27031] [KO:K19360]
(NPHP4) NPHP4 [HSA:261734] [KO:K16478]
(NPHP5) IQCB1 [HSA:9657] [KO:K16774]
(NPHP6) CEP290 [HSA:80184] [KO:K16533]
(NPHP7) GLIS2 [HSA:84662] [KO:K09233]
(NPHP9) NEK8 [HSA:284086] [KO:K20877]
(NPHP10) SDCCAG8 [HSA:10806] [KO:K16488]
(NPHP11) TMEM67 [HSA:91147] [KO:K19348]
(NPHP12) TTC21B [HSA:79809] [KO:K19673]
(NPHP13) WDR19 [HSA:57728] [KO:K19671]
(NPHP14) ZNF423 [HSA:23090] [KO:K22870]
(NPHP15) CEP164 [HSA:22897] [KO:K16462]
(NPHP16) ANKS6 [HSA:203286] [KO:K21415]
(NPHP18) CEP83 [HSA:51134] [KO:K16754]
(NPHP19) DCDC2 [HSA:51473]
(NPHP20) MAPKBP1 [HSA:23005] [KO:K21763]
(NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262]
Other DBs
ICD-11: GB83
ICD-10: Q61.5
MeSH: D052177
OMIM: 256100 602088 604387 606966 609254 610189 611498 613824 613615 613550 613820 614377 614844 614845 615382 615862 616217 617271 613159
Reference
  Authors
Bergmann C
  Title
Educational paper: ciliopathies.
  Journal
Eur J Pediatr 171:1285-300 (2012)
DOI:10.1007/s00431-011-1553-z
Reference
  Authors
Hildebrandt F, Omram H
  Title
New insights: nephronophthisis-medullary cystic kidney disease.
  Journal
Pediatr Nephrol 16:168-76 (2001)
Reference
  Authors
Wolf MT, Hildebrandt F
  Title
Nephronophthisis.
  Journal
Pediatr Nephrol 26:181-94 (2011)
DOI:10.1007/s00467-010-1585-z
Reference
  Authors
Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA
  Title
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
  Journal
Hum Genet 132:865-84 (2013)
DOI:10.1007/s00439-013-1297-0
Reference
  Authors
Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F
  Title
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
  Journal
Cell 150:533-48 (2012)
DOI:10.1016/j.cell.2012.06.028
Reference
  Authors
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstadter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS
  Title
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
  Journal
Nat Genet 45:951-6 (2013)
DOI:10.1038/ng.2681
Reference
  Authors
Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ
  Title
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
  Journal
Nat Genet 45:299-303 (2013)
DOI:10.1038/ng.2543
Reference
  Authors
Stokman M, Lilien M, Knoers N
  Title
Nephronophthisis
  Journal
GeneReviews (1993)

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