{"orpha":727719,"name":"Monoamine oxidase A and monoamine oxidase B deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Monoamine oxidase A and monoamine oxidase B deletion syndrome","MAOA/B deletion syndrome","MAOA/B deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727719/","orphanet_url":"https://www.orpha.net/en/disease/detail/727719","names":{"fr":{"name":"Déficit en monoamine oxydase A et monoamine oxydase B","synonyms":["Syndrome de délétion de la monoamine oxydase A et la monoamine oxydase B","Syndrome de délétion MAOA/B","Déficit MAOA/B"]},"de":{"name":"Monoaminoxidase-A- und Monoaminoxidase-B-Mangel","synonyms":["MAOA/B-Mangel","Monoaminoxidase-A- und Monoaminoxidase-B-Deletionssyndrom","MAOA/B-Deletionssyndrom"]},"es":{"name":"Deficiencia de monoaminooxidasa A y monoaminooxidasa B","synonyms":["Deficiencia de MAOA/B","Síndrome de deleción de MAOA/B","Síndrome de deleción de monoaminooxidasa A y monoaminooxidasa B"]},"it":{"name":"Deficit di monoamino ossidasi A e monoamino ossidasi B","synonyms":["Deficit di MAOA/B","Sindrome da delezione di MAOA/B","Sindrome da delezione di monoamino ossidasi A e monoamino ossidasi B"]},"nl":{"name":"Deficiëntie van monoamineoxidase A en monoamineoxidase B","synonyms":["MAOA/B-deletiesyndroom","Monoamineoxidase A en monoamineoxidase B-deletiesyndroom"]},"pt":{"name":"Monoamine oxidase A and monoamine oxidase B deficiency"},"pl":{"name":"Monoamine oxidase A and monoamine oxidase B deficiency","synonyms":["Monoamine oxidase A and monoamine oxidase B deletion syndrome","MAOA/B deletion syndrome","MAOA/B deficiency"]},"cs":{"name":"Monoamine oxidase A and monoamine oxidase B deficiency","synonyms":["Monoamine oxidase A and monoamine oxidase B deletion syndrome","MAOA/B deletion syndrome","MAOA/B deficiency"]}},"xrefs":[],"associations":[],"incoming_associations":[],"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":"Role in the phenotype of","status":"Assessed","source":"23414621[PMID]","hgnc":"6833","ensembl":"ENSG00000189221","omim":"309850","loci":["Xp11.3"]},{"symbol":"MAOB","name":"monoamine oxidase B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23414621[PMID]","hgnc":"6834","ensembl":"ENSG00000069535","omim":"309860","loci":["Xp11.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}