{"orpha":140976,"name":"RHYNS syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"],"definition":"A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140976/","orphanet_url":"https://www.orpha.net/en/disease/detail/140976","names":{"fr":{"name":"Syndrome RHYNS","synonyms":["Syndrome de rétinite pigmentaire-hypopituitarisme-néphronophtise-dysplasie osseuse"],"definition":"Le syndrome RHYNS est caractérisé par l'association d'une rétinite pigmentaire, d'un hypopituitarisme, d'une néphronophtise et d'une dysplasie squelettique."},"de":{"name":"RHYNS-Syndrom","definition":"Eine seltene genetisch bedingte syndromale Netzhauterkrankung, die durch die Kombination von Retinitis pigmentosa, Hypopituitarismus, Nephronophthise und Skelettdysplasie gekennzeichnet ist."},"es":{"name":"Síndrome RHYNS","definition":"Es un trastorno genético y sindrómico de la retina poco frecuente caracterizado por la asociación de retinosis pigmentaria, hipopituitarismo, nefronoptisis y displasia esquelética."},"it":{"name":"Sindrome RHYNS"},"nl":{"name":"RHYNS-syndroom","synonyms":["Retinitis pigmentosa - hypopituïtarisme - nefronoftisis - skeletdysplasie-syndroom"],"definition":"Een zeldzame genetische, syndromale aandoening van retina, gekenmerkt door de associatie van retinitis pigmentosa, hypopituïtarisme, nefronoftisis, en skeletdysplasie."},"pt":{"name":"Síndrome RHYNS","definition":"A síndrome de RHYNS é caracterizada pela associação de retinite pigmentosa, hipopituitarismo, nefronoftise e displasia esquelética."},"pl":{"name":"Zespół RHYNS","synonyms":["Zwyrodnienie barwnikowe siatkówki - niedoczynność przysadki - nefronoftyza - dysplazja szkieletowa"]},"cs":{"name":"RHYNS syndrom","synonyms":["Syndrom zahrnující retinitis pigmentosa, hypopituitarismus, nefronoftízu a skeletální dysplázii"]},"uk":{"name":"RHYNS синдром","synonyms":["Синдром пігментного ретиніту-гіпопітуїтаризму-нефронофтізісу- скелетної дисплазії"],"definition":"A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia."},"zh":{"name":"RHYNS综合征","synonyms":["视网膜色素变性-垂体功能减退症-肾消耗病-骨骼发育不良综合征"],"definition":"RHYNS综合征的特征与色素性视网膜炎、垂体功能减退、肾消耗病和骨骼发育不良相关。"},"tr":{"name":"RHYNS sendromu","synonyms":["Retinitis pigmentosa-hipopitüitarizm-nefronofitizis-iskelet displazisi sendromu"]}},"xrefs":[{"source":"OMIM","code":"602152","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1712420452"},{"source":"MONDO","code":"0011202","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537612","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865794","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9681","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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]}],"children":[],"genes":[{"symbol":"TMEM67","name":"transmembrane protein 67","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29891882[PMID]","hgnc":"28396","ensembl":"ENSG00000164953","omim":"609884","loci":["8q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"9375913[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9375913[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-01","source":"9375913[PMID]","terms":[{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000090","label":"Nephronophthisis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006897","label":"Abducens palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000002","label":"Abnormality of body height","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003170","label":"Abnormality of the acetabulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010585","label":"Small epiphyses","frequency":"Frequent (79-30%)","criteria":null}]}}