{"orpha":216873,"name":"Atypical pantothenate kinase-associated neurodegeneration","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["NBIA1, atypical form","Neurodegeneration with brain iron accumulation type 1, atypical form","PKAN, atypical form"],"definition":"A rare neurodegenerative disorder characterized by adolescent to adult-onset of slowly progressive dystonia, dysarthria, neuropsychiatric changes, parkinsonism and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Atypical pantothenate kinase-associated neurodegeneration (PKAN) has later onset and slower progression than classic PKAN and accounts for about 25% of cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216873/","orphanet_url":"https://www.orpha.net/en/disease/detail/216873","names":{"fr":{"name":"Neurodégénérescence par déficit en pantothénate kinase, forme atypique","synonyms":["NBIA1, forme atypique","Neurodégénérescence avec surcharge cérébrale en fer type 1, forme atypique","PKAN, forme atypique"]},"de":{"name":"Pantothenat-Kinase-assoziierte Neurodegeneration, atypische Form","synonyms":["NBIA1, atypische Form","Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1, atypische Form","PKAN, atypische Form"]},"es":{"name":"Neurodegeneración asociada a pantotenato quinasa, forma atípica","synonyms":["NBIA1, forma atípica","Neurodegeneración con acumulación de hierro en el cerebro tipo 1, forma atípica","PKAN, forma atípica"]},"it":{"name":"Neurodegenerazione associata a deficit di pantotenato chinasi, forma atipica","synonyms":["NBIA1, forma atipica","Neurodegenerazione con accumulo cerebrale di ferro tipo 1, forma atipica","PKAN, forma atipica"]},"nl":{"name":"Atypische pantothenaatkinasegeassocieerde neurodegeneratie","synonyms":["NBIA1, atypische vorm","Neurodegeneratie met ijzeropstapeling in de hersenen type 1, atypische vorm","PKAN, atypische vorm"]},"pt":{"name":"Neurodegenerescência associada a pantotenato cinase atípica"},"pl":{"name":"Atypowa neurodegeneracja związana z kinazą pantetonianu","synonyms":["NBIA1, postać atypowa","Neurodegeneracja z gromadzeniem żelaza w mózgu typu 1, postać atypowa","PKAN, postać atypowa"]},"cs":{"name":"Atypická neurodegenerace asociovaná s pantotenát-kinázou","synonyms":["NBIA1, atypická forma","Neurodegenerace s akumulací železa v mozku, typ 1, atypická forma","PKAN, atypická forma"]},"uk":{"name":"Атипова пантотенаткіназа-асоційована нейродегенерація","synonyms":["NBIA1, атипова форма","Нейродегенерація з накопиченням заліза в мозку, тип 1, атипова форма","PKAN, атипова форма"]},"zh":{"name":"非典型泛酸激酶相关神经变性","synonyms":["非典型神经变性疾病伴脑铁积聚1型"]},"tr":{"name":"Atipik pantotenat kinaz -ilişkili nörodejenerasyon","synonyms":["PKAN, atipik form","NBIA1, atipik form","Beyin demir birikimi tip 1 ile seyreden nörodejenerasyon, atipik 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":"267298136"},{"source":"MONDO","code":"0016305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568621","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-12","source":"20301663[PMID]","terms":[{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008760","label":"Violent behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030216","label":"Inertia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}