{"orpha":313800,"name":"ROSAH syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Optic nerve edema-splenomegaly syndrome","Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"],"definition":"A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313800/","orphanet_url":"https://www.orpha.net/en/disease/detail/313800","names":{"fr":{"name":"Syndrome ROSAH","synonyms":["Syndrome de dystrophie rétinienne-oedème du nerf optique-splénomégalie-anhidrose-céphalée migraineuse"],"definition":"Maladie rare, probablement d'origine génétique, caractérisée par une splénomégalie massive idiopathique avec pancytopénie et un oedème chronique du nerf optique apparaissant pendant l'enfance avec une perte de vision lentement progressive. D'autres caractéristiques rapportées sont une anhidrose, un urticaire et des maux de tête."},"de":{"name":"ROSAH-Syndrom","synonyms":["Sehnervödem-Splenomegalie-Syndrom","Netzhautdystrophie-Sehnervödem-Splenomegalie-Anhidrose-Migräne-Kopfschmerz-Syndrom"],"definition":"Eine vermutlich genetisch bedingte seltene Störung, die durch idiopathische massive Splenomegalie mit Panzytopenie und ein im Kindesalter einsetzendes chronisches Sehnervenödem mit langsam fortschreitendem Sehverlust gekennzeichnet ist. Zu den weiteren berichteten Symptomen gehören Anhidrose, Urtikaria und Kopfschmerzen."},"es":{"name":"Síndrome ROSAH","synonyms":["Síndrome de edema del nervio óptico-esplenomegalia","Síndrome de distrofia retiniana-edema del nervio óptico-esplenomegalia-anhidrosis-cefalea migrañosa"],"definition":"Es un trastorno poco frecuente presumiblemente genético, caracterizado por esplenomegalia idiopática masiva con pancitopenia y edema crónico del nervio óptico crónico de inicio en la infancia, con pérdida visual de progresión lenta. Otras características adicionales incluyen anhidrosis, urticaria y cefaleas."},"it":{"name":"Sindrome ROSAH","synonyms":["Sindrome edema del nervo ottico-splenomegalia","Sindrome da distrofia della retina, edema del nervo ottico, splenomegalia, anidrosi ed emicrania","Sindrome da edema del nervo ottico e splenomegalia"],"definition":"La sindrome che associa edema del nervo ottico e splenomegalia è una malattia rara, di probabile origine genetica, caratterizzata da marcata splenomegalia idiopatica, pancitopenia ed edema del nervo ottico ad esordio infantile associato a perdita della vista a progressione lenta. Altri segni clinici comprendono l'anidrosi, l'orticaria e la cefalea."},"nl":{"name":"ROSAH-syndroom","synonyms":["Oedeem van nervus opticus - splenomegalie-syndroom","Retinadystrofie - oedeem van nervus opticus - splenomegalie - anhidrose - migrainehoofdpijn-syndroom"],"definition":"Een zeldzame, vermoedelijk genetische aandoening, gekenmerkt door idiopathische massale splenomegalie met pancytopenie en in de kindertijd aanvangend chronisch oedeem van oogzenuw met traag progressief verlies van gezichtsvermogen. Bijkomend gerapporteerde kenmerken zijn onder meer anhidrose, urticaria en hoofdpijn."},"pt":{"name":"Síndrome de distrofia da retina-edema do nervo óptico-esplenomegalia-anidrose-enxaqueca","synonyms":["Síndrome ROSAH","Síndrome de edema do nervo óptico-esplenomegália"]},"pl":{"name":"Zespół obrzęk nerwu wzrokowego-splenomegalia","synonyms":["Zespół dystrofia siatkówki-obrzęk nerwu wzrokowego-splenomegalia-brak potliwości-migrenowy ból głowy"],"definition":"*Zespół obrzęku nerwu wzrokowego - splenomegalia jest rzadkim, przypuszczalnie genetycznie uwarunkowanym zaburzeniem, które charakteryzuje się idiopatyczną masywną splenomegalią z pancytopenią i przewlekłym obrzękiem nerwu wzrokowego, który pojawia się w dzieciństwie i prowadzi do powoli postępującej utraty wzroku. Dodatkowo opisywano zmniejszone wydzielanie potu, pokrzywkę i bóle głowy."},"cs":{"name":"Syndrom zahrnující retinální dystrofii, edém optického nervu, splenomegalii, anhidrózu a migrenózní bolesti hlavy","synonyms":["Optic nerve edema-splenomegaly syndrome","Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"]},"uk":{"name":"Синдром дистрофії сітківки-набряку зорового нерва-спленомегалії-ангідрозу-мігрені","synonyms":["Синдром набряку зорового нерва-спленомегалії","Синдром ROSAH"],"definition":"A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches."},"zh":{"name":"视神经水肿-脾肿大综合征","definition":"视神经水肿-脾肿大综合征是一种罕见的遗传性疾病，其特征是特发性巨脾肿大伴全血细胞减少和儿童期发病的慢性视神经水肿伴缓慢进行性视力丧失。其它报告的临床表现包括无汗，荨麻疹和头痛。"},"tr":{"name":"Optik sinir ödemi-splenomegali sendromu"}},"xrefs":[{"source":"OMIM","code":"614979","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013999","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749914","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519339,"name":"Pseudopapilledema","classifications":[156,189]},{"orpha":165711,"name":"Rare abdominal surgical disease","classifications":[182]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ALPK1","name":"alpha kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30967659[PMID]","hgnc":"20917","ensembl":"ENSG00000073331","omim":"607347","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22307799[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}