{"orpha":140969,"name":"Saldino-Mainzer syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Conorenal syndrome","Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome"],"definition":"Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140969/","orphanet_url":"https://www.orpha.net/en/disease/detail/140969","names":{"fr":{"name":"Syndrome de Saldino-Mainzer","synonyms":["Syndrome conorénal","Syndrome de dysplasie rénale-dystrophie pigmentaire de la rétine-ataxie cérébelleuse-dysplasie osseuse"],"definition":"Le syndrome de Saldino-Mainzer est caractérisé par l'association d'une maladie rénale, d'une dystrophie pigmentaire de la rétine, d'une ataxie cérébelleuse et d'une dysplasie osseuse."},"de":{"name":"Saldino-Mainzer-Syndrom","definition":"Das Saldino-Mainzer-Syndrom ist gekennzeichnet durch die Assoziation von Nephropathie, Pigmentdystrophie der Retina, zerebellärer Ataxie und Skelettdysplasie."},"es":{"name":"Síndrome de Saldino-Mainzer","synonyms":["Displasia renal-distrofia pigmentaria de la retina-ataxia cerebelosa-displasia del esqueleto","Displasia renal-distrofia pigmentaria retiniana-ataxia cerebelosa-displasia esquelética","Síndrome conorenal"],"definition":"El síndrome de Saldino-Mainzer se caracteriza por la asociación de enfermedad renal, distrofia pigmentaria retiniana, ataxia cerebelosa y displasia esquelética."},"it":{"name":"Sindrome di Saldino-Mainzer"},"nl":{"name":"Syndroom van Saldino-Mainzer","synonyms":["Conorenaal syndroom","Renale dysplasie - retinale pigmentdystrofie - cerebellaire ataxie - skeletdysplasie-syndroom"],"definition":"Een syndroom, gekenmerkt door de associatie van nierziekte, retinale pigmentdystrofie, cerebellaire ataxie, en skeletdysplasie."},"pt":{"name":"Síndrome Saldino-Mainzer","synonyms":["Síndrome de displasia renal-distrofia pigmentosa da retina-ataxia cerebelosa-displasia esquelética"],"definition":"A síndrome Saldino-Mainzer é caracterizada pela associação de doença renal, distrofia pigmentar da retina, ataxia cerebelar e displasia esquelética."},"pl":{"name":"Zespół Saldino i Mainzera","synonyms":["Dysplazja nerek - dystrofia barwnikowa siatkówki - ataksja móżdżkowa - dysplazja szkieletowa","Zespół stożkowo-nerkowy"]},"cs":{"name":"Saldinův-Mainzerův syndrom","synonyms":["Cono-renální syndrom","Syndrom zahrnující renální dysplázii, pigmentovou dystrofii retiny, mozečkovou ataxii a skeletální dysplázii","Saldino-Mainzerův syndrom"]},"uk":{"name":"Синдром Сальдіно-Майнцера","synonyms":["Коноренальний синдром","Синдром ниркової дисплазії - пігментної дистрофії сітківки - мозочкової атаксії - скелетної дисплазії"],"definition":"Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia."},"zh":{"name":"Saldino-Mainzer综合征","synonyms":["肾发育不良-视网膜色素营养不良-小脑共济失调-骨骼发育不良综合征"],"definition":"Saldino-Mainzer综合征的特征与肾脏疾病、视网膜色素营养不良、小脑共济失调和骨骼发育不良相关。"},"tr":{"name":"Saldino-Mainzer sendromu","synonyms":["Konorenal sendrom","Böbrek displazisi-retina pigmenter distrofi-serebellar ataksi-iskelet displazisi sendromu"]}},"xrefs":[{"source":"OMIM","code":"266920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615630","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"704951474"},{"source":"MeSH","code":"C535463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849437","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8600","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088468","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","classifications":[147,156,199]},{"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]}],"children":[],"genes":[{"symbol":"IFT140","name":"intraflagellar transport 140","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22503633[PMID]","hgnc":"29077","ensembl":"ENSG00000187535","omim":"614620","loci":["16p13.3"]},{"symbol":"IFT172","name":"intraflagellar transport 172","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24140113[PMID]","hgnc":"30391","ensembl":"ENSG00000138002","omim":"607386","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"22503633[PMID]_23418020[PMID]_28724397[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22503633[PMID]_23418020[PMID]_28724397[PMID]"}],"phenotypes":null}