{"orpha":3204,"name":"Stormorken-Sjaastad-Langslet syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Stormorken syndrome","Thrombocytopathy-asplenia-miosis syndrome"],"definition":"Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3204/","orphanet_url":"https://www.orpha.net/en/disease/detail/3204","names":{"fr":{"name":"Syndrome de Stormorken-Sjaastad-Langslet","synonyms":["Syndrome de Stormorken","Syndrome de thrombocytopathie-asplénie-myosis"],"definition":"Le syndrome de Stormorken-Sjaastad-Langslet est caractérisé par une thrombocytopathie, une asplénie, un myosis, une fatigue musculaire, des migraines, une dyslexie et une ichtyose. Il a été décrit chez six membres d'une famille. Il se transmet sur le mode autosomique dominant."},"de":{"name":"Stormorken-Sjaastad-Langslet-Syndrom","synonyms":["Thrombozytopathie-Asplenie-Miosis-Syndrom","Stormorken-Syndrom"],"definition":"Das Stormorken-Sjaastad-Langslet-Syndrom ist gekennzeichnet durch Thrombozytopathie, Asplenie, Miosis (Verengung der Pupillen), leichte Muskelermüdung, Migraine, Dyslexie und Ichthyose. Es wurde in 1 Familie bei 6 Angehörigen beschrieben und wird autosomal-dominant vererbt."},"es":{"name":"Síndrome de Stormorken-Sjaastad-Langslet","synonyms":["Síndrome de Stormorken","Síndrome de trombocitopatía-asplenia-miosis"],"definition":"Es un síndrome caracterizado por trombocitopatía, asplenia, miosis, fatiga muscular, migrañas, dislexia e ictiosis. Se ha descrito en seis miembros de una familia. Se transmite de manera autosómica dominante."},"it":{"name":"Sindrome di Stormorken-Sjaastad-Langslet","synonyms":["Trombocitopatia - asplenia - miosi"]},"nl":{"name":"Syndroom van Stormorken-Sjaastad-Langslet","synonyms":["Syndroom van Stormorken","Trombocytopathie - asplenie - miosis-syndroom"],"definition":"Syndroom van Stormorken-Sjaastad-Langslet wordt gekarakteriseerd door trombocytopathie, asplenie, miosis, spiermoeheid, migraine, dyslexie, en ichtyose. Het werd beschreven bij zes leden van een familie. Het wordt overgedragen als een autosomaal dominante eigenschap."},"pt":{"name":"Síndrome Stormorken-Sjaastad-Langslet","synonyms":["Síndrome de trombocitopatia-asplenia-miose"]},"pl":{"name":"Zespół Stormorkena, Sjaastada i Langsleta","synonyms":["Trombocytopatia - brak śledziony - mioza"]},"cs":{"name":"Stormorkenův-Sjaastadův-Langsletův syndrom","synonyms":["Syndrom zahrnující trombocytopatii, asplenii a miózu","Stormorken-Sjaastad-Langsletův syndrom"]},"uk":{"name":"Синдром Сторморкена-Сяастада-Лангслета","synonyms":["Синдром Сторморкена","Синдром тромбоцитопатії-аспленії-міозу"],"definition":"Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait."},"zh":{"name":"Stormorken-Sjaastad-Langslet综合征","synonyms":["血小板病-无脾-瞳孔缩小综合征"]},"tr":{"name":"Stormorken-Sjaastad-Langslet sendromu","synonyms":["Stormorken sendromu","Trombositopati-aspleni-miyozis sendromu"]}},"xrefs":[{"source":"OMIM","code":"185070","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"888271138"},{"source":"MONDO","code":"0008497","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566108","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861451","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5188","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"ORAI1","name":"ORAI calcium release-activated calcium modulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24591628[PMID]","hgnc":"25896","ensembl":"ENSG00000276045","omim":"610277","loci":["12q24.31"]},{"symbol":"STIM1","name":"stromal interaction molecule 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24591628[PMID]","hgnc":"11386","ensembl":"ENSG00000167323","omim":"605921","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"25044882[PMID]_25577287[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25044882[PMID]_25577287[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000616","label":"Miosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}