{"orpha":3156,"name":"Senior-Loken syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nephronophthisis with retinal dystrophy","Renal dysplasia-retinal aplasia syndrome","SLSN"],"definition":"A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3156/","orphanet_url":"https://www.orpha.net/en/disease/detail/3156","names":{"fr":{"name":"Syndrome de Senior-Loken","synonyms":["Néphronophtise avec dystrophie rétinienne","SLSN","Syndrome de dysplasie rénale-aplasie rétinienne"],"definition":"Maladie oculo-rénale autosomique récessive très rare, caractérisée par l'association d'une néphronophtise, d'une néphropathie tubulo-interstitielle chronique et d'une dystrophie rétinienne."},"de":{"name":"Senior-Loken-Syndrom","synonyms":["Nephronophthise mit Retinadystrophie","SLSN","Renaldysplasie-Retinaaplasie-Syndrom"],"definition":"Das Senior-Loken-Syndrom (SLS) ist eine sehr seltene, autosomal-rezessiv vererbte okulo-renale Krankheit und gekennzeichnet durch die Assoziation von Nephronophthise (NPHP), einer chronischen Nierenkrankheit, mit Netzhautdystrophie."},"es":{"name":"Síndrome de Senior-Loken","synonyms":["Displasia renal-aplasia retiniana","Nefronoptisis con distrofia de la retina","SLSN"],"definition":"Es una ciliopatía óculo-renal autosómica recesiva minoritaria caracterizada por la asociación de nefronoptisis (NF), y enfermedad renal crónica asociada con distrofia retiniana."},"it":{"name":"Sindrome di Senior-Loken","synonyms":["Displasia renale - aplasia retinica","Nefronoftisi con distrofia retinica","SLSN"],"definition":"La sindrome di Senior-Loken (SLS) è una ciliopatia oculo-renale autosomica recessiva rara, caratterizzata da nefronoftisi (NPHP), malattia renale cronica e distrofia retinica."},"nl":{"name":"Syndroom van Senior-Loken","synonyms":["Nefronoftise met retinale dystrofie","Renale dysplasie - retinale aplasie-syndroom","SLSN"],"definition":"Een zeldzame, autosomaal recessieve oculo-renale ciliopathie, gekarakteriseerd door associatie van nefronoftise (NPHP), een chronische nierziekte, met retinadystrofie."},"pt":{"name":"Síndrome Senior-Loken","synonyms":["SLSN","Síndrome de displasia renal-aplasia da retina"],"definition":"A síndrome de Senior-Loken (SLSN) é uma doença óculo-renal autossómica recessiva muito rara, caracterizada pela associação de nefronoftise (NPHP), uma doença renal crónica, com distrofia retiniana."},"pl":{"name":"Zespół Seniora i Lokena","synonyms":["Dysplazja nerek - aplazja siatkówki","Nefronoftyza z dystrofią siatkówki","SLSN"]},"cs":{"name":"Senior-Loken syndrom","synonyms":["Nefronoftíza s retinální dystrofií","Syndrom zahrnující renální dysplázii a retinální aplázii","SLSN"]},"uk":{"name":"Синдром Сеніора-Локена","synonyms":["Нефронофтіз з дистрофією сітківки","Синдром ниркової дисплазії - аплазії сітківки","SLSN"],"definition":"A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy."},"zh":{"name":"Senior-Loken综合征","synonyms":["肾发育不良-视网膜发育不全综合征"]},"tr":{"name":"Senior-Loken sendromu","synonyms":["SLSN","Retina distrofisi ile seyreden nefronofitisis","Böbrek displazisi-retinal aplazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"266900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"606995","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606996","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609254","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610189","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613615","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614845","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616307","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616629","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1975732692"},{"source":"MONDO","code":"0017842","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537580","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403553","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"322","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084074","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156180,"name":"Retinal ciliopathy due to mutation in nephronophthisis gene","classifications":[156]}],"children":[],"genes":[{"symbol":"IFT54","name":"intraflagellar transport 54","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26487268[PMID]","hgnc":"17861","ensembl":"ENSG00000204104","omim":"607380","loci":["2q37.3"]},{"symbol":"CEP164","name":"centrosomal protein 164","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22863007[PMID]","hgnc":"29182","ensembl":"ENSG00000110274","omim":"614848","loci":["11q23.3"]},{"symbol":"CEP290","name":"centrosomal protein 290","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22819833[PMID]","hgnc":"29021","ensembl":"ENSG00000198707","omim":"610142","loci":["12q21.32"]},{"symbol":"INVS","name":"inversin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16522655[PMID]_22819833[PMID]","hgnc":"17870","ensembl":"ENSG00000119509","omim":"243305","loci":["9q31.1"]},{"symbol":"IQCB1","name":"IQ motif containing B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22819833[PMID]","hgnc":"28949","ensembl":"ENSG00000173226","omim":"609237","loci":["3q13.33"]},{"symbol":"NPHP1","name":"nephrocystin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22819833[PMID]","hgnc":"7905","ensembl":"ENSG00000144061","omim":"607100","loci":["2q13"]},{"symbol":"NPHP3","name":"nephrocystin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22819833[PMID]","hgnc":"7907","ensembl":"ENSG00000113971","omim":"608002","loci":["3q22.1"]},{"symbol":"NPHP4","name":"nephrocystin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22819833[PMID]","hgnc":"19104","ensembl":"ENSG00000131697","omim":"607215","loci":["1p36.31"]},{"symbol":"SDCCAG8","name":"SHH signaling and ciliogenesis regulator SDCCAG8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22819833[PMID]","hgnc":"10671","ensembl":"ENSG00000054282","omim":"613524","loci":["1q43-q44"]},{"symbol":"WDR19","name":"WD repeat domain 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23683095[PMID]","hgnc":"18340","ensembl":"ENSG00000157796","omim":"608151","loci":["4p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33109693[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000090","label":"Nephronophthisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null}]}}