{"orpha":3057,"name":"Monoamine oxidase A deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Brunner syndrome"],"definition":"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3057/","orphanet_url":"https://www.orpha.net/en/disease/detail/3057","names":{"fr":{"name":"Déficit en monoamine oxydase A","synonyms":["Syndrome de Brunner"],"definition":"Le déficit en monoamine oxydase A est un trouble très rare du métabolisme des amines biogènes, récessif lié à l'X se manifestant au cours de l'enfance, caractérisé sur le plan clinique par une déficience intellectuelle légère, une agressivité impulsive et parfois un comportement violent."},"de":{"name":"Monoaminoxidase-A-Mangel","synonyms":["Brunner-Syndrom"],"definition":"Der Monoaminoxidase-A-Mangel ist eine sehr seltene X-chromosomal-rezessiv vererbte Störung des Stoffwechsels der biogenen Amine. Er ist klinisch charakterisiert durch mildes intellektuelles Defizit, impulsive Aggressivität und manchmal gewalttätiges Verhalten. Die Symptome setzen im Kindesalter ein."},"es":{"name":"Deficiencia de monoamina oxidasa A","synonyms":["Síndrome de Brunner"],"definition":"El déficit de monoamina oxidasa A es un trastorno muy poco frecuente del metabolismo de las aminas biogénicas recesivo ligado al X, y que se caracteriza clínicamente por un leve déficit intelectual, agresividad impulsiva y, a veces, un comportamiento violento; se presenta desde la infancia."},"it":{"name":"Deficit di monoamina-ossidasi A","synonyms":["Sindrome di Brunner"],"definition":"Il deficit di monoamina-ossidasi A è un difetto molto raro del metabolismo delle amine biogene, ad eredità recessiva legata all'X, caratterizzato da deficit cognitivo lieve, aggressività impulsiva e, a volte, comportamento violento. Si manifesta nel corso dell'infanzia."},"nl":{"name":"Monoamineoxidase A-deficiëntie","synonyms":["Syndroom van Brunner"],"definition":"Een zeer zeldzame recessieve X-gebonden stoornis van metabolisme van biogene aminen, klinisch gekenmerkt door milde intellectuele achterstand, impulsieve agressie, en soms gewelddadig gedrag, met presentatie vanaf de kindertijd."},"pt":{"name":"Deficiência de monoamina oxidase A"},"pl":{"name":"Niedobór oksydazy monoaminowej A","synonyms":["Brunner syndrome"]},"cs":{"name":"Deficit monoaminooxidázy A","synonyms":["Brunnerův syndrom"]},"uk":{"name":"Дефіцит моноамінооксидази А","synonyms":["Синдром Бруннера"],"definition":"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood."},"zh":{"name":"单胺氧化酶A缺乏","synonyms":["Brunner综合征"]},"tr":{"name":"Monoamin oksidaz A eksikliği","synonyms":["Brunner sendromu"]}},"xrefs":[{"source":"OMIM","code":"300615","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1742370445"},{"source":"MONDO","code":"0010379","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563156","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796275","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3531","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081371","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3065,"name":"X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79169,"name":"Disorder of neurotransmitter metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MAOA","name":"monoamine oxidase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8211186[PMID]_24169519[PMID]","hgnc":"6833","ensembl":"ENSG00000189221","omim":"309850","loci":["Xp11.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}