{"orpha":329284,"name":"Beta-propeller protein-associated neurodegeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BPAN","NBIA5","Neurodegeneration with brain iron accumulation type 5","SENDA","Static encephalopathy of childhood with neurodegeneration in adulthood"],"definition":"Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329284/","orphanet_url":"https://www.orpha.net/en/disease/detail/329284","names":{"fr":{"name":"Neurodégénérescence associée à une protéine bêta-propeller","synonyms":["BPAN","Encéphalopathie statique de l'enfant avec neurodégénérescence chez l'adulte","NBIA5","Neurodégénérescence avec surcharge cérébrale en fer type 5","SENDA"],"definition":"Forme rare de neurodégénérescence avec surcharge cérébrale en fer (NBIA pour neurodegeneration with brain iron accumulation) caractérisée par un retard de développement précoce et par une détérioration neurologique au début de l'âge adulte."},"de":{"name":"Beta-propeller-Protein-assoziierte Neurodegeneration","synonyms":["SENDA","Statische Enzephalopathie der Kindheit mit Neurodegeneration im Erwachsenenalter","BPAN","NBIA5","Neurodegeneration mit Eisenspeicherung im Gehirn Typ 5"]},"es":{"name":"Neurodegeneración asociada a la proteína beta-propeller","synonyms":["BPAN","Encefalopatía estática de la infancia con neurodegeneración en el adulto","NBIA5","Neurodegeneración con acumulación de hierro en el cerebro tipo 5","SENDA"],"definition":"Es una encefalopatía estática de la infancia con neurodegeneración al inicio de la edad adulta. Constituye una forma poco frecuente de neurodegeneración con acúmulo cerebral de hierro (NBIA, por sus siglas en inglés) caracterizada por retraso en el desarrollo psicomotor de inicio precoz asociado a deterioro neurológico al inicio de la edad adulta."},"it":{"name":"Neurodegenerazione associata alla proteina beta-propeller","synonyms":["BPAN","Encefalopatia stastica dell'infanzia con neurodegenerazione nell'età adulta","NBIA5","Neurodegenerazione con accumulo cerebrale di ferro, tipo 5","SENDA"],"definition":"La neurodegenerazione associata alla proteina beta-propeller (BPAN), nota anche come encefalopatia statica dell'infanzia con neurodegenerazione nell'età adulta, è una forma rara di neurodegenerazione con accumulo di ferro a livello cerebrale (NBIA). È caratterizzata da ritardo dello sviluppo ad esordio precoce e progressivo deterioramento neurologico nella prima età adulta."},"nl":{"name":"Neurodegeneratie geassocieerd met bèta-propellerproteïne","synonyms":["BPAN","NBIA5","Neurodegeneratie met ijzeropstapeling in hersenen type 5","SENDA","Statische encefalopathie in de kindertijd met neurodegeneratie in de volwassenheid"],"definition":"Neurodegeneratie geassocieerd met bèta-propellerproteïne (BPAN), ook gekend als statische encefalopathie in de kindertijd met neurodegeneratie in de volwassenheid, is een zeldzame vorm van neurodegeneratie met ijzerstapeling in de hersenen (NBIA) die gekarakteriseerd wordt door vroege aanvang van ontwikkelingsachterstand en verdere neurologische aftakeling in de vroege volwassenheid."},"pt":{"name":"Neurodegenerescência associada a proteína hélice-beta"},"pl":{"name":"Neurodegeneracja związana z białkiem typu beta-properell","synonyms":["BPAN","Encefalopatia statyczna wieku dziecięcego z neurodegeneracją w wieku dorosłym","NBIA5","Neurodegeneracja z gromadzeniem żelaza w mózgu typu 5","SENDA"]},"cs":{"name":"Statická encefalopatie v dětství s neurodegenerací v dospělosti","synonyms":["BPAN","NBIA5","SENDA","Neurodegenerace s akumulací železa v mozku, typ 5"]},"uk":{"name":"Нейродегенерація, асоційована з бета-пропелерним протеїном","synonyms":["BPAN","NBIA5","Нейродегенерація з накопиченням заліза в мозку, тип 5","SENDA","Статична енцефалопатія дитячого віку з нейродегенерацією в дорослому віці"],"definition":"Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood."},"zh":{"name":"大脑铁沉积型神经退行性病变5型","synonyms":["儿童静态脑病伴成人起病神经退行性变"],"definition":"β-螺旋桨蛋白相关神经退行性变（BPAN）又称儿童静止性脑病伴成年期神经退行性变，是一种少见的伴有脑铁蓄积的神经退行性变（NBIA），其特点是早期发育迟缓，成年早期神经功能进一步恶化。"},"tr":{"name":"Beta-pervane proteini -ilişkili nörodejenerasyon","synonyms":["BPAN","NBIA5","SENDA","Beyin demir birikimi ile nörodejenerasyon tip 5","Erişkinlikte nörodejenerasyonlu çocukluk çağı statik ensefalopatisi"]}},"xrefs":[{"source":"OMIM","code":"300894","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3550973","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12570","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"WDR45","name":"WD repeat domain 45","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23435086[PMID]","hgnc":"28912","ensembl":"ENSG00000196998","omim":"300526","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":68.0,"area":"Worldwide","status":"Validated","source":"29445477[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29445477[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-11","source":"22892189[PMID]_23212724[PMID]_18981035[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000743","label":"Frontal release signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012675","label":"Iron accumulation in brain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012678","label":"Iron accumulation in substantia nigra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002448","label":"Progressive encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}