{"orpha":157850,"name":"Pantothenate kinase-associated neurodegeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hallervorden-Spatz syndrome","NBIA1","Neurodegeneration with brain iron accumulation type 1","PKAN"],"definition":"A rare 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. Forms include classic disease with early onset and rapid progression and atypical disease with later onset and slower progression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157850/","orphanet_url":"https://www.orpha.net/en/disease/detail/157850","names":{"fr":{"name":"Neurodégénérescence par déficit en pantothénate kinase","synonyms":["NBIA1","Neurodégénérescence avec surcharge cérébrale en fer type 1","PKAN","Syndrome de Hallervorden-Spatz"],"definition":"La neurodégénérescence associée à un déficit en pantothénate kinase (NBIA1) est la forme la plus courante de neurodégénérescence avec surcharge cérébrale en fer, un trouble neurodégénératif rare caractérisé par une dysfonction extrapyramidale progressive (dystonie, rigidité, choréo-athétose), une surcharge cérébrale en fer et des sphéroïdes axonaux dans le système nerveux central (SNC)."},"de":{"name":"Pantothenat-Kinase-assoziierte Neurodegeneration","synonyms":["Hallervorden-Spatz-Syndrom","NBIA1","Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1","PKAN"]},"es":{"name":"Neurodegeneración asociada a pantotenato-quinasa","synonyms":["NBIA1","Neurodegeneración con acúmulo cerebral de hierro tipo 1","PKAN","Síndrome de Hallervorden-Spatz"],"definition":"La neurodegeneración asociada a pantotenato quinasa (PKAN; por sus siglas en inglés) es el tipo más común de neurodegeneración con acúmulo cerebral de hierro ( NACH), un trastorno neurodegenerativo raro caracterizado por disfunción extrapiramidal progresiva (distonía, rigidez, coreoatetosis), acúmulo cerebral de hierro y esferoides axonales en el sistema nervioso central."},"it":{"name":"Neurodegenerazione associata a pantotenato chinasi","synonyms":["NBIA1","Neurodegenerazione con deposito cerebrale di ferro, tipo 1","PKAN","Sindrome di Hallervorden-Spatz"]},"nl":{"name":"Pantothenaatkinasegeassocieerde neurodegeneratie","synonyms":["NBIA1","Neurodegeneratie met ijzerstapeling in de hersenen type 1","PKAN","Syndroom van Hallervorden-Spatz"],"definition":"Het meest voorkomende type van neurodegeneratie met ijzerstapeling in hersenen (NBIA), een zeldzame neurodegeneratieve aandoening gekenmerkt door progressieve extrapiramidale disfunctie (dystonie, rigiditeit, choreoathetose), accumulatie van ijzer in hersenen, en axonale sferoïden in centraal zenuwstelsel."},"pt":{"name":"Neurodegenerescência associada a pantotenato quinase"},"pl":{"name":"Neurodegeneracja związana z kinazą pantotenianu","synonyms":["NBIA1","Neurodegeneracja z magazynowaniem żelaza w mózgu typu 1","PKAN","Zespół Hallervordena i Spatza"]},"cs":{"name":"Neurodegenerace spojená s pantotenátkinázou","synonyms":["NBIA1","Neurodegenerace spojená s akumulací železa, typ 1","PKAN","Hallervordenův-Spatzův syndrom","Hallervorden-Spatzův syndrom"]},"uk":{"name":"Пантотенаткіназа-асоційована нейродегенерація","synonyms":["Синдром Халлервордена-Шпатца","NBIA1","Нейродегенерація з накопиченням заліза в мозку, тип 1","PKAN"],"definition":"Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system."},"zh":{"name":"大脑铁沉积型神经退行性病变1型","synonyms":["神经退行性病变伴有脑铁沉积1型"],"definition":"泛酸激酶相关神经退行性变（PKAN）是一种最常见的伴脑铁蓄积的神经退行性变（NBIA；见该词条），该罕见神经退行性病的特征是进行性锥体外系功能障碍（肌张力障碍、僵硬、舞蹈手足徐动症）、脑铁蓄积和中枢神经系统内球状神经轴突。"},"tr":{"name":"Pantotenat kinaz-ilişkili nörodejenerasyon","synonyms":["PKAN","NBIA1","Hallervorden-Spatz sendromu","Beyin demir birikimi tip 1 ile seyreden nörodejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"234200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"183705274"},{"source":"MONDO","code":"0009319","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006211","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018523","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6564","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]},{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":263440,"name":"Neuroacanthocytosis","classifications":[156,181]},{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[{"orpha":216873,"name":"Atypical pantothenate kinase-associated neurodegeneration","type":"Clinical subtype"},{"orpha":216866,"name":"Classic pantothenate kinase-associated neurodegeneration","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":216866,"name":"Classic pantothenate kinase-associated neurodegeneration"}},{"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"],"via":{"orpha":216873,"name":"Atypical pantothenate kinase-associated neurodegeneration"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Europe","status":"Validated","source":"22027213[PMID]_[EXPERT]_ ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-25","source":"29844889[PMID]_30804242[PMID]_20301663[PMID]","terms":[{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008181","label":"Abetalipoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001927","label":"Acanthocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","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:0012678","label":"Iron accumulation in substantia nigra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031959","label":"Leg dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009763","label":"Limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012045","label":"Retinal flecks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011504","label":"Bull's eye maculopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032014","label":"Dysmetric vertical saccades","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003084","label":"Fractures of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000619","label":"Impaired convergence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031814","label":"Palilalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007132","label":"Pallidal degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025402","label":"Square-wave jerks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031937","label":"Tachylalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100033","label":"Tics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011916","label":"Toe extensor amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001345","label":"Psychotic mentation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}