{"orpha":306682,"name":"Manganese poisoning","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Manganese intoxication","Manganism"],"definition":"A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306682/","orphanet_url":"https://www.orpha.net/en/disease/detail/306682","names":{"fr":{"name":"Intoxication au manganèse","synonyms":["Manganisme"],"definition":"Maladie rare due à des effets toxiques, caractérisée par une atteinte progressive et permanente du système nerveux extrapyramidal, le globus pallidus et le striatum étant les principales cibles des effets neurotoxiques. Les signes cliniques incluent des maux de tête, des insomnies, des pertes de mémoire, une instabilité émotionnelle, une hyperréflexie, une dystonie, des tremblements, des troubles du langage et des troubles de la marche. Les facteurs tels que l'âge, le sexe, la génétique et les antécédents médicaux semblent avoir un impact considérable sur la toxicité du manganèse."},"de":{"name":"Mangan-Vergiftung","definition":"Eine seltene, auf eine Vergiftung zurückzuführende Erkrankung, die durch eine fortschreitende, dauerhafte Beeinträchtigung des extrapyramidalen Systems gekennzeichnet ist, wobei der Globus pallidus und das Striatum die Hauptziele der neurotoxischen Wirkungen darstellen. Zu den Symptomen gehören Kopfschmerzen, Schlaflosigkeit, Gedächtnisverlust, emotionale Instabilität, Hyperreflexie, Dystonie, Tremor, Sprachstörungen und Gangstörungen. Individuelle Faktoren wie Alter, Geschlecht, genetische Veranlagung und Vorerkrankungen scheinen einen großen Einfluss auf die Mangantoxizität zu haben."},"es":{"name":"Intoxicación por manganeso","synonyms":["Manganismo"],"definition":"Es un trastorno poco frecuente debido a efectos tóxicos caracterizado por una afectación progresiva y permanente del sistema extrapiramidal, los principales objetivos de los efectos neurotoxicos son el globo pálido y el cuerpo estriado. Los síntomas incluyen cefalea, insomnio, pérdida de memoria, inestabilidad emocional, hiperreflexia, distonía, temblor, alteraciones del habla y anomalías de la marcha. Los factores individuales tales como la edad, el género, la genética y las afecciones médicas preexistentes parecen ser factores importantes en la toxicidad del manganeso."},"it":{"name":"Avvelenamento da manganese","synonyms":["Intossicazione da manganese","Manganismo"],"definition":"Si tratta di una malattia rara da tossicità, caratterizzata da un interessamento progressivo e permanente del sistema extrapiramidale; il globo pallido e il corpo striato sono i principali bersagli degli effetti neurotossici. I sintomi comprendono la cefalea, l'insonnia, la perdita della memoria, l'instabilità emotiva, l'iperreflessia, la distonia, i tremori, i deficit del linguaggio e le anomalie dell'andatura. Fattori soggettivi come l'età, il sesso, la genetica e le malattie preesistenti sembrano avere un notevole impatto sulla tossicità da manganese."},"nl":{"name":"Mangaanvergiftiging","synonyms":["Mangaanintoxicatie","Manganisme"],"definition":"Een zeldzame aandoening als gevolg van intoxicatie, gekarakteriseerd door progressieve, permanente verstoring van extrapiramidaal systeem, met globus pallidus en striatum als voornaamste mikpunt van neurotoxische effecten. Symptomen zijn onder meer hoofdpijn, slapeloosheid, geheugenverlies, emotionele instabiliteit, hyperreflexie, dystonie, tremor, spraakstoornissen, en ganganomalieën. Individuele factoren zoals leeftijd, geslacht, genetica, en reeds aanwezige medische aandoeningen lijken een grote impact te hebben op intoxicatie door mangaan."},"pt":{"name":"Intoxicação por manganésio"},"pl":{"name":"Zatrucie manganem","synonyms":["Intoksykacja manganem","Manganizm"]},"cs":{"name":"Otrava manganem","synonyms":["Intoxikace manganem","Manganismus"]},"uk":{"name":"Отруєння марганцем","synonyms":["Марганцева інтоксикація","Манганізм"],"definition":"A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity."},"zh":{"name":"锰中毒","synonyms":["锰中毒"],"definition":"一种由毒性作用所致罕见病，其特征是进行性、永久性锥体外系病变，苍白球和纹状体是神经毒性的主要靶点。症状包括头痛、失眠、记忆力减退、情绪不稳、反射亢进、肌张力障碍、震颤、言语障碍和步态异常。年龄、性别、遗传和既有医疗条件等个体因素对锰毒性具有深远影响。"},"tr":{"name":"Manganez zehirlenmesi","synonyms":["Manganizm","Manganez intoksikasyonu"]}},"xrefs":[{"source":"ICD-10","code":"T57.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"NE61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"406995649"},{"source":"MONDO","code":"0017638","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020149","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0677050","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058951","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":556508,"name":"Rare disorder due to poisoning","classifications":[204]},{"orpha":306679,"name":"Rare parkinsonian syndrome due to intoxication","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-30","source":"26154659[PMID]_7936278[PMID]_5101169[PMID]_26154659[PMID]_20403794[PMID]","terms":[{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003287","label":"Abnormality of mitochondrial metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025464","label":"Increased reactive oxygen species production","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040306","label":"Decreased male libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000748","label":"Inappropriate laughter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5200321","label":"Amplification of sexual behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031466","label":"Impairment in personality functioning","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null}]}}