{"orpha":216866,"name":"Classic pantothenate kinase-associated neurodegeneration","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["NBIA1, classic form","Neurodegeneration with brain iron accumulation type 1, classic form","PKAN, classic form"],"definition":"A rare, childhood-onset neurodegenerative disorder characterized by progressive dystonia, dysarthria, retinal degeneration and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Classic PKAN has early onset and rapid progression and accounts for about 75% of cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216866/","orphanet_url":"https://www.orpha.net/en/disease/detail/216866","names":{"fr":{"name":"Neurodégénérescence par déficit en pantothénate kinase, forme classique","synonyms":["NBIA1, forme classique","Neurodégénérescence avec surcharge cérébrale en fer type 1, forme classique","PKAN, forme classique"]},"de":{"name":"Pantothenat-Kinase-assoziierte Neurodegeneration, klassische Form","synonyms":["NBIA1, klassische Form","Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1, klassische Form","PKAN, klassische Form"]},"es":{"name":"Neurodegeneración asociada a pantotenato quinasa, forma clásica","synonyms":["NBIA1, forma clásica","Neurodegeneración con acumulación de hierro en el cerebro tipo 1, forma clásica","PKAN, forma clásica"]},"it":{"name":"Neurodegenerazione associata a deficit di pantotenato chinasi, forma classica","synonyms":["NBIA1, forma classica","PKAN, forma classica"]},"nl":{"name":"Klassieke pantothenaatkinasegeassocieerde neurodegeneratie","synonyms":["NBIA1, klassieke vorm","Neurodegeneratie met ijzeropstapeling in de hersenen type 1, klassieke vorm","PKAN, klassieke vorm"]},"pt":{"name":"Neurodegenerescência associada a pantotenato cinase clássica"},"pl":{"name":"Klasyczna neurodegeneracja związana z kinazą pantotenową","synonyms":["NBIA1, postać klasyczna","Neurodegeneracja z mózgową kumulacją żelaza typ 1, postać klasyczna","PKAN, postać klasyczna"]},"cs":{"name":"Klasická neurodegenerace asociovaná s pantotenát-kinázou","synonyms":["NBIA1, klasická forma","Neurodegenerace s akumulací železa v mozku, typ 1, klasická forma","PKAN, klasická forma"]},"uk":{"name":"Класична пантотенаткіназа-асоційована нейродегенерація","synonyms":["NBIA1, класична форма","Нейродегенерація з накопиченням заліза в мозку, тип 1, класична форма","PKAN, класична форма"]},"zh":{"name":"经典泛酸激酶相关神经变性","synonyms":["经典型神经退行性疾病伴脑铁蓄积1型"]},"tr":{"name":"Klasik pantotenat kinaz -ilişkili nörodejenerasyon","synonyms":["PKAN, klasik form","NBIA1, klasik form","Beyin demir birikimi tip 1 ile seyreden nörodejenerasyon, klasik form"]}},"xrefs":[{"source":"OMIM","code":"234200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"453750085"},{"source":"MONDO","code":"0016304","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679812","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":157855,"name":"HARP syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":157850,"name":"Pantothenate kinase-associated neurodegeneration","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"PANK2","name":"pantothenate kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"15894","ensembl":"ENSG00000125779","omim":"606157","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-12","source":"23370589[PMID]_20882425[PMID]_20301663[PMID]","terms":[{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002533","label":"Abnormal posturing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002454","label":"Eye of the tiger anomaly of globus pallidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012675","label":"Iron accumulation in brain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}