{"orpha":100974,"name":"FRAXF syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100974/","orphanet_url":"https://www.orpha.net/en/disease/detail/100974","names":{"fr":{"name":"Syndrome FRAXF","definition":"Le syndrome FRAXF a été identifié initialement chez une famille présentant un retard de développement et une expansion de la répétition CCG au site fragile FRAXF sensible au folate. Depuis la description initiale, le syndrome a été associé à diverses manifestations mais aucun phénotype clair n'a encore été établi."},"de":{"name":"FRAXF-Syndrom","definition":"Das FRAXF-Syndrom wurde zuerst in einer Familie beschrieben, in der entwicklungsverzögerte Angehörige in der folat-sensitiven fragilen Stelle FRAXF amplifizierte CGG-Repeats aufwiesen. Seit dieser ersten Beschreibung wurde FRAXF mit einer Vielzahl von Symptomen in Zusammenhang gebracht, ein klarer Phänotyp ist aber nicht erkennbar."},"es":{"name":"Síndrome FRAXF","definition":"Originariamente, el síndrome FRAXF fue identificado en una familia con retraso en el desarrollo, y repetición CCG ampliada, en el sitio frágil FRAXF sensible al folato. Desde su descripción inicial, este síndrome se ha asociado a un grupo de manifestaciones sin que ningún fenotipo se haya establecido de forma clara."},"it":{"name":"Sindrome FRAXF"},"nl":{"name":"FRAXF-syndroom","definition":"Een syndroom, oorspronkelijk geïdentificeerd bij een familie met ontwikkelingsachterstand en een expansie van CCG-herhalingen in de foliumzuur-sensitieve FRAXF fragiele site. Sinds de initiële beschrijving werd FRAXF geassocieerd met een waaier van manifestaties, maar er werd geen duidelijk fenotype vastgesteld."},"pt":{"name":"Síndrome FRAXF"},"pl":{"name":"Zespół FRAXF"},"cs":{"name":"FRAXF syndrom"},"uk":{"name":"Синдром FRAXF","definition":"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established."},"zh":{"name":"FRAXF综合征","definition":"FRAXF综合征最初是在一个有发育迟缓和叶酸敏感的FRAXF脆性部位CCG重复扩大的家庭中发现的。自从这个最初的描述以来，FRAXF已经与一系列的表现相关，但还没有明确的表型。"},"tr":{"name":"FRAXF sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q99.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015084","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274329","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TMEM185A","name":"transmembrane protein 185A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7874164[PMID]","hgnc":"17125","ensembl":"ENSG00000269556","omim":"300031","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-16","source":"18078840[PMID]","terms":[{"hpo":"HP:0003564","label":"Folate-dependent fragile site at Xq28","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000118","label":"Phenotypic abnormality","frequency":"Very rare (<4-1%)","criteria":null}]}}