{"orpha":3077,"name":"X-linked intellectual disability-psychosis-macroorchidism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lindsay-Burn syndrome","PPM-X"],"definition":"An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3077/","orphanet_url":"https://www.orpha.net/en/disease/detail/3077","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-psychose-macroorchidie","synonyms":["PPM-X","Syndrome de Lindsay-Burn"],"definition":"Déficience intellectuelle syndromique rare, liée à l'X, caractérisée par un retard de développement, une déficience intellectuelle de degré variable, un retard ou une absence de langage, des signes pyramidaux, des tremblements, une macro-orchidie et des troubles variables du comportement et de l'humeur, dont psychose et comportement de type autistique. La maladie touche majoritairement les hommes, et certaines femmes ont une moins bonne fonction cognitive."},"de":{"name":"X-chromosomale Intelligenzminderung-Psychose-Makroorchidie-Syndrom","synonyms":["Lindsay-Burn-Syndrom","PPM-X"],"definition":"Eine X-chromosomale Form der Intelligenzminderung, die durch Entwicklungsverzögerung, einen unterschiedlichen Grad an Intelligenzminderung, Sprachverzögerung oder fehlende Sprache, pyramidale Anzeichen, Tremor, Makroorchismus und unterschiedliche Stimmungs- und Verhaltensprobleme, einschließlich Psychosen und autismusähnliches Verhalten, gekennzeichnet ist. Überwiegend sind Männer betroffen, einige Frauen weisen einen milden neurologischen Phänotyp auf."},"es":{"name":"Síndrome de discapacidad intelectual-psicosis-macroorquidia ligado al cromosoma X","synonyms":["PPM-X","Síndrome de Lindsay-Burn"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por retraso del desarrollo, grado variable de discapacidad intelectual, retraso o ausencia del habla, signos piramidales, temblor y macroorquidia, así como estado de ánimo variable y trastornos de conducta, incluyendo psicosis y comportamiento de tipo autista. Afecta predominantemente a varones, mientras que algunas mujeres muestran capacidades cognitivas más bajas."},"it":{"name":"Sindrome disabilità intellettiva legata all'X-psicosi-macroorchidismo","synonyms":["PPM-X","Sindrome di Lindsay-Burn"],"definition":"È una disabilità intellettiva sindromica legata all'X, caratterizzata da ritardo dello sviluppo, disabilità intellettiva di gravità variabile, ritardo o assenza del linguaggio, segni piramidali, tremore, macroorchidismo e disturbi comportamentali e dell'umore di grado variabile, che comprendono la psicosi e i tratti autistici. La malattia colpisce soprattutto i maschi; alcune femmine presentano deficit cognitivi."},"nl":{"name":"X-gebonden intellectuele achterstand - psychose - macro-orchidisme-syndroom","synonyms":["PPM-X","Syndroom van Lindsay-Burn","X-gebonden intellectuele achterstand - psychose - macro-orchidie-syndroom"],"definition":"Een X-gebonden, syndromale intellectuele beperking die gekarakteriseerd wordt door ontwikkelingsachterstand, variabele gradaties van intellectuele achterstand, spraakachterstand of afwezige spraak, piramidale tekenen, tremor, macro-orchidie, en variabele stemmings- en gedragsproblemen, waaronder psychose en autisme-achtig gedrag. Vooral mannen worden getroffen, terwijl sommige vrouwen minder cognitieve vaardigheden vertonen."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-psicose-macroorquidismo ligada ao X","synonyms":["PPM-X","Síndrome Lindsay-Burn"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - psychoza - makroorchidyzm","synonyms":["PPM-X","Zespół Lindsay'a i Burna"]},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, psychózu a makroorchidismus","synonyms":["PPM-X","Lindsayové-Burnův syndrom","Lindsay-Burnův syndrom"]},"uk":{"name":"Х-зчеплений синдром інтелектуальної недостатності-психозу-макроорхідізму","synonyms":["Синдром Ліндсі-Берна","PPM-X"],"definition":"An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities."},"zh":{"name":"X连锁智力障碍-精神异常-巨大睾丸综合征","synonyms":["Lindsay-Burn综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik-psikoz-makroorşidizm sendromu","synonyms":["PPM-X","Lindsay-Burn sendromu"]}},"xrefs":[{"source":"OMIM","code":"300055","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010235","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796222","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3506","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MECP2","name":"methyl-CpG binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11885030[PMID]","hgnc":"6990","ensembl":"ENSG00000169057","omim":"300005","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"8651288[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8651288[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-09","source":"8651288[PMID]_11885030[PMID]","terms":[{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011188","label":"Focal EEG discharges with secondary generalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100852","label":"Abnormal fear/anxiety-related behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025403","label":"Stooped posture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null}]}}