{"orpha":2379,"name":"Early-onset parkinsonism-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Laxova-Opitz syndrome","Waisman syndrome"],"definition":"A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2379/","orphanet_url":"https://www.orpha.net/en/disease/detail/2379","names":{"fr":{"name":"Syndrome de parkinsonisme précoce-déficience intellectuelle","synonyms":["Syndrome de Laxova-Opitz","Syndrome de Waisman"],"definition":"Déficience intellectuelle liée à l'X syndromique rare d'origine génétique caractérisée par une déficience intellectuelle non progressive d'apparition infantile (avec retard de développement psychomoteur, troubles cognitifs et macrocéphalie) et un parkinsonisme d'apparition précoce (avant l'âge de 45 ans), chez les patients de sexe masculin."},"de":{"name":"Frühbeginnender Parkinsonismus-Intelligenzminderung-Syndrom","synonyms":["Laxova-Opitz-Syndrom","Waisman-Syndrom"],"definition":"Eine seltene X-chromosomale syndromale Form der Intelligenzminderung mit nicht-progredientem intellektuellem Defizit (mit psychomotorischer Entwicklungsverzögerung, kognitiver Beeinträchtigung und Makrozephalie) und früh einsetzendem Parkinsonismus (vor dem 45. Lebensjahr) bei männlichen Patienten."},"es":{"name":"Síndrome de parkinsonismo de inicio precoz-discapacidad intelectual","synonyms":["Síndrome de Laxova-Opitz","Síndrome de Waisman"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X poco frecuente caracterizada por un déficit intelectual no progresivo de inicio en la lactancia (con retraso del desarrollo psicomotor, afectación cognitiva y macrocefalia) y parkinsonismo de inicio precoz (antes de los 45 años), afectando a pacientes varones."},"it":{"name":"Parkinsonismo ad esordio precoce-disabilità intellettiva","synonyms":["Sindrome di Laxova-Opitz","Sindrome di Waisman"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da deficit intellettivo non progressivo ad esordio infantile (associato a ritardo dello sviluppo psicomotorio, deficit cognitivo e macrocefalia) e parkinsonismo ad esordio precoce (prima dei 45 anni) nei pazienti di sesso maschile."},"nl":{"name":"Ziekte van Parkinson met vroege aanvang - intellectuele achterstand-syndroom","synonyms":["Syndroom van Laxova-Opitz","Syndroom van Waisman"],"definition":"Een zeldzame, X-gebonden syndromale intellectuele achterstand, gekarakteriseerd door infantiel aanvangende, niet-progressieve intellectuele achterstand (met psychomotorische ontwikkelingsachterstand, cognitieve functiestoornis en macrocefalie) en vroeg optredend parkinsonisme (voor de leeftijd van 45 jaar) bij mannelijke patiënten."},"pt":{"name":"Síndrome de parkinsonismo de início precoce-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Laxova-Opitz","Síndrome Waisman"]},"pl":{"name":"Parkinsonizm o wczesnym początku - niepełnosprawność intelektualna","synonyms":["Zespół Laxova i Opitza","Zespół Waismana"]},"cs":{"name":"Syndrom zahrnující parkinsonismus s časným nástupem a mentální retardaci","synonyms":["Laxova-Opitzův syndrom","Waismanův syndrom"]},"uk":{"name":"Синдром раннього паркінсонізму та інтелектуальної недостатності","synonyms":["Синдром Лаксова-Опітца","Синдром Вайсмана"],"definition":"A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients."},"zh":{"name":"早发型帕金森症-智力障碍综合征","synonyms":["Laxova-Opitz综合征"]},"tr":{"name":"Erken başlangıçlı parkinson-zihinsel yetersizlik sendromu","synonyms":["Waisman sendromu","Laxova-Opitz sendromu"]}},"xrefs":[{"source":"OMIM","code":"311510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"937544163"},{"source":"MONDO","code":"0010709","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537179","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796195","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3203","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":307055,"name":"Rare parkinsonian syndrome due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RAB39B","name":"RAB39B, member RAS oncogene family","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25434005[PMID]","hgnc":"16499","ensembl":"ENSG00000155961","omim":"300774","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4025396[PMID]_25434005[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4025396[PMID]_25434005[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","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:0002396","label":"Cogwheel rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}