{"orpha":85332,"name":"X-linked intellectual disability-retinitis pigmentosa syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aldred syndrome","Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion","Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)","Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3"],"definition":"X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85332/","orphanet_url":"https://www.orpha.net/en/disease/detail/85332","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-rétinite pigmentaire","synonyms":["Rétinite pigmentaire et déficience intellectuelle dues à une del(X)(p11.3)","Rétinite pigmentaire et déficience intellectuelle dues à une microdélétion Xp11.3","Rétinite pigmentaire et déficience intellectuelle dues à une monosomie Xp11.3","Syndrome d'Aldred"],"definition":"Le syndrome de déficience intellectuelle liée à l'X-rétinite pigmentaireest caractérisé par un déficit intellectuel modéré associé à une rétinite pigmentaire sévère à début précoce. Il a été décrit chez cinq individus masculins appartenant à trois générations d'une même famille. Certains patients présentaient également une microcéphalie. Ce syndrome se transmet sur le mode récessif lié à l'X."},"de":{"name":"X-chromosomale Intelligenzminderung-Retinitis pigmentosa-Syndrom","synonyms":["Aldred-Syndrom","Retinitis pigmentosa und Intelligenzminderung bei del(X)(p11.3)","Retinitis pigmentosa und Intelligenzminderung durch Mikrodeletion Xp11.3","Retinitis pigmentosa und Intelligenzminderung durch Monosomie Xp11.3"],"definition":"Das X-chromosomale Syndrom mit Intelligenzminderung und Retinitis pigmentosa ist durch eine mäßige Intelligenzminderung und eine schwere, früh auftretende Retinitis pigmentosa gekennzeichnet."},"es":{"name":"Síndrome de discapacidad intelectual-retinosis pigmentaria ligado al cromosoma X","synonyms":["Retinosis pigmentaria y discapacidad intelectual por del(X)(p11.3)","Retinosis pigmentaria y discapacidad intelectual por microdeleción Xp11.3","Retinosis pigmentaria y discapacidad intelectual por monosomía Xp11.3","Síndrome de Aldred"],"definition":"Es un síndrome caracterizado por un déficit intelectual moderado y retinitis pigmentosa grave de aparición temprana. Se ha descrito en cinco varones de tres generaciones de una misma familia. Algunos pacientes también presentaron microcefalia. Se transmite como un rasgo recesivo ligado al cromosoma X."},"it":{"name":"Sindrome deficit cognitivo legato all'X-retinite pigmentosa","synonyms":["Retinite pigmentosa e deficit cognitivo da del(X)(p11.3)","Retinite pigmentosa e deficit cognitivo da microdelezione Xp11.3","Retinite pigmentosa e deficit cognitivo da monosomia Xp11.3","Sindrome di Aldred"]},"nl":{"name":"X-gebonden intellectuele achterstand - retinitis pigmentosa-syndroom","synonyms":["Retinitis pigmentosa en intellectuele achterstand door Xp11.3-microdeletie","Retinitis pigmentosa en intellectuele achterstand door del(X)(p11.3)","Retinitis pigmentosa en intellectuele achterstand door monosomie Xp11.3","Syndroom van Aldred"],"definition":"Een syndroom, gekenmerkt door matige intellectuele achterstand en ernstige, vroeg optredende retinitis pigmentosa. Het werd beschreven bij vijf mannen uit drie generaties van één familie. Sommige patiënten hadden ook microcefalie. De aandoening wordt overgedragen als een X-gebonden recessief kenmerk."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-retinite pigmentosa ligada ao X","synonyms":["Retinite pigmentosa e perturbação do desenvolvimento intelectual devido a del(X)(p11.3)","Retinite pigmentosa e perturbação do desenvolvimento intelectual devido a monossomia Xp11.3","Retinite pigmentosa e perturbação do desenvolvimento intelectual devido à microdeleção Xp11.3","Síndrome Aldred"]},"pl":{"name":"Zespół niepełnosprawność intelektualna sprzężona z chromosomem X - zwyrodnienie barwnikowe siatkówki","synonyms":["Zespół Aldreda","Zwyrodnienie barwnikowe siatkówki i niepełnosprawność intelektualna z powodu del(X)(p11.3)","Zwyrodnienie barwnikowe siatkówki i niepełnosprawność intelektualna z powodu mikrodelecji Xp11.3","Zwyrodnienie barwnikowe siatkówki i niepełnosprawność intelektualna z powodu monosomii Xp11.3"]},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci a retinitis pigmentosa","synonyms":["Aldredův syndrom","Retinitis pigmentosa a mentální retardace způsobené mikrodelecí Xp11.3","Retinitis pigmentosa a mentální retardace způsobené del(X)(p11.3)","Retinitis pigmentosa a mentální retardace způsobené monozomií Xp11.3"]},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-пігментної дегенерації сітківки","synonyms":["Синдром Олдреда","Пігментна дегенерація сітківки та розумова відсталість внаслідок del(X)(p11.3)","Пігментний ретиніт та розумова відсталість внаслідок моносомії Xp11.3","Пігментний ретиніт та розумова відсталість внаслідок мікроделеції Xp11.3"],"definition":"X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait."},"zh":{"name":"X连锁智力障碍-视网膜色素变性综合征","synonyms":["Xp11.3微缺失所致色素性视网膜炎伴智力障碍"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik-retinitis pigmentosa sendromu","synonyms":["Aldred sendromu","Retinitis pigmentosa ve del(X)(p11.3) 'e bağlı zihinsel yetersizlik","Retinitis pigmentosa ve monozomi Xp11.3'e bağlı zihinsel yetersizlik","Retinitis pigmentosa ve Xp11.3 mikrodelesyonuna bağlı zihinsel yetersizlik"]}},"xrefs":[{"source":"OMIM","code":"300578","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010364","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537046","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795873","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8360","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":261512,"name":"OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263731,"name":"Partial deletion of the short arm of the chromosome X syndrome","classifications":[147,156]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null}]}}