KEGG   DISEASE: Senior-Loken syndromeHelp
Entry
H00538                      Disease                                

Name
Senior-Loken syndrome
  Supergrp
Nephronophthisis [DS:H00537]
Description
Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the urinary system
   H00538  Senior-Loken syndrome
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
     H00538  Senior-Loken syndrome
BRITE hierarchy
Gene
(SLSN1) NPHP1 [HSA:4867] [KO:K19657]
(SLSN4) NPHP4 [HSA:261734] [KO:K16478]
(SLSN5) IQCB1 [HSA:9657] [KO:K16774]
(SLSN6) CEP290 [HSA:80184] [KO:K16533]
(SLSN7) SDCCAG8 [HSA:10806] [KO:K16488]
(SLSN8) WDR19 [HSA:57728] [KO:K19671]
(SLSN9) TRAF3IP1 [HSA:26146] [KO:K19680]
Other DBs
ICD-11: GB83
ICD-10: Q61.5
MeSH: C537580
OMIM: 266900 606996 609254 610189 613615 616307 616629
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
Adams NA, Awadein A, Toma HS
  Title
The retinal ciliopathies.
  Journal
Ophthalmic Genet 28:113-25 (2007)
DOI:10.1080/13816810701537424
Reference
  Authors
Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F
  Title
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
  Journal
Nat Genet 37:282-8 (2005)
DOI:10.1038/ng1520
Reference
  Authors
Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F
  Title
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.
  Journal
J Med Genet 44:657-63 (2007)
DOI:10.1136/jmg.2007.052027
Reference
  Authors
Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F
  Title
Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.
  Journal
Am J Hum Genet 70:1240-6 (2002)
DOI:10.1086/340317
Reference
  Authors
Omran H, Sasmaz G, Haffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F
  Title
Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.
  Journal
J Am Soc Nephrol 13:75-9 (2002)
Reference
  Authors
Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermuller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nurnberg G, Nurnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F
  Title
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
  Journal
Nat Genet 42:840-50 (2010)
DOI:10.1038/ng.662
Reference
  Authors
Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK
  Title
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
  Journal
Clin Genet 84:150-9 (2013)
DOI:10.1111/cge.12196
Reference
  Authors
Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschke P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NA, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S
  Title
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
  Journal
Nat Commun 6:8666 (2015)
DOI:10.1038/ncomms9666

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