{"orpha":309854,"name":"Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309854/","orphanet_url":"https://www.orpha.net/en/disease/detail/309854","names":{"fr":{"name":"Syndrome de cirrhose-dystonie-polycythémie-hypermanganésémie","definition":"Anomalie rare du transport du manganèse caractérisée par des troubles du système extrapyramidal de motricité apparaissant pendant l'enfance (y compris la dystonie, les tremblements et la bradykinésie), une cirrhose du foie, une polyglobulie et une hypermanganémie. Des cas de paraparésie spastique sans dysfonctionnement extrapyramidal ont également été rapportés. Les fonctions cognitives sont préservées. Les résultats de l'IRM sont évocateurs d'un dépôt de manganèse dans les ganglions de la base, le noyau dentelé, le tronc cérébral et l'hypophyse antérieure."},"de":{"name":"Zirrhose-Dystonie-Polyzythämie-Hypermanganämie-Syndrom","definition":"Eine seltene Störung des Mangantransports, die in der Kindheit mit extrapyramidalen Bewegungsstörungen (einschließlich Dystonie, Tremor und Bradykinesie), Leberzirrhose, Polyzythämie und Hypermanganämie einhergeht. Es wurden auch Fälle mit spastischer Paraparese ohne extrapyramidale Funktionsstörungen berichtet. Die kognitiven Funktionen sind erhalten. Die Ergebnisse der Bildgebung des Gehirns deuten auf Ablagerungen von Mangan in den Basalganglien, dem Nucleus dentatus, dem Hirnstamm und dem Hypophysenvorderlappen hin."},"es":{"name":"Síndrome de cirrosis-distonía-policitemia-hipermanganesemia","definition":"Es un trastorno poco frecuente del transporte de manganeso caracterizado por un trastorno del movimiento extrapiramidal (incluyendo distonía, temblor y bradicinesia), cirrosis hepática, policitemia e hipermanganesemia de inicio en la infancia. También se han descrito casos de paraparesia espástica sin disfunción extrapiramidal. Las funciones cognitivas están conservadas. Los hallazgos de la neuroimagen son compatibles con la deposición de manganeso en los ganglios basales, el núcleo dentado, el tronco encefálico y la hipófisis anterior."},"it":{"name":"Sindrome cirrosi-distonia-policitemia-ipermagnesemia","definition":"Si tratta di una malattia rara del trasporto del manganese, caratterizzata da anomalie del movimento di natura extrapiramidale ad esordio infantile (distonia, tremore e bradicinesia), cirrosi epatica, policitemia e ipermanganesemia. Sono stati descritti pazienti con paraparesi spastica in assenza di disfunzione extrapiramidale. La funzione cognitiva è preservata. Le neuroimmagini evidenziano depositi di manganese nei gangli basali, nel nucleo dentato, nel tronco encefalico e nell'ipofisi anteriore."},"nl":{"name":"Cirrose - dystonie - polycytemie - hypermanganesemie-syndroom","definition":"Een zeldzame stoornis van transport van mangaan, gekarakteriseerd door aanvang in de kindertijd van extrapiramidale bewegingsstoornis (inclusief dystonie, tremor, en bradykinesie), levercirrose, polycytemie, en hypermagnesiëmie. Gevallen met spastische paraparese zonder extrapiramidale disfunctie werden ook reeds gerapporteerd. Cognitieve functies blijven bewaard. Bevindingen van beeldvorming van hersenen zijn consistent met depositie van mangaan in basale ganglia, nucleus dentatus, hersenstam, en adenohypofyse."},"pt":{"name":"Síndrome de cirrose - distonia - policitémia - hipermanganesémia"},"pl":{"name":"Zespół marskość wątroby-dystonia-policytemia-hipermanganemia"},"cs":{"name":"Syndrom zahrnující cirhózu, dystonii, polycytémii a hypermanganémii"},"uk":{"name":"Синдром цирозу печінки-дистонії-поліцитемії-гіперманганеземії","definition":"A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary."},"zh":{"name":"肝硬化-肌张力障碍-红细胞增多症-高锰血症综合征"},"tr":{"name":"Siroz-distoni-polisitemi-hipermanganezemi sendromu"}},"xrefs":[{"source":"OMIM","code":"613280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.40","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013208","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548016","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750442","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10706","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309851,"name":"Disorder of manganese transport","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]},{"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]}],"children":[],"genes":[{"symbol":"SLC30A10","name":"solute carrier family 30 member 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22341972[PMID]","hgnc":"25355","ensembl":"ENSG00000196660","omim":"611146","loci":["1q41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"22934317[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22934317[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-14","source":"18392750[PMID]_24599576[PMID]_22341972[PMID]_22341971[PMID]","terms":[{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010927","label":"Abnormal blood inorganic cation concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040135","label":"Abnormal transferrin saturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001413","label":"Micronodular cirrhosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004337","label":"Abnormality of amino acid metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002446","label":"Astrocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025321","label":"Copper accumulation in liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012343","label":"Decreased serum ferritin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002154","label":"Hyperglycinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025196","label":"Increased total iron binding capacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100513","label":"Low levels of vitamin E","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Occasional (29-5%)","criteria":null}]}}