H00538 | |
H number | H00538 |
Name | Senior-Loken syndrome |
Description | Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa. |
Category | Congenital malformation |
Network | - |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: GB83 ICD-10: Q61.5 MeSH: C537580 OMIM: 266900 606996 609254 610189 613615 616307 616629 |
Reference | PMID:21898032 AUTHORS Bergmann C TITLE Educational paper: ciliopathies. JOURNAL Eur J Pediatr 171:1285-300 (2012) DOI:10.1007/s00431-011-1553-z PMID:17896309 AUTHORS Adams NA, Awadein A, Toma HS TITLE The retinal ciliopathies. JOURNAL Ophthalmic Genet 28:113-25 (2007) DOI:10.1080/13816810701537424 PMID:9856524 (SLSN1) AUTHORS Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM TITLE Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. JOURNAL Am J Kidney Dis 32:1059-62 (1998) DOI:10.1016/s0272-6386(98)70083-6 PMID:11920287 (SLSN4) 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 PMID:15723066 (SLSN5) 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 PMID:17617513 (SLSN6) 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 PMID:20835237 (SLSN7) 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 PMID:23683095 (SLSN8) 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 PMID:26487268 (SLSN9) 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 |