{"orpha":508523,"name":"Hyperphenylalaninemia due to DNAJC12 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia"],"definition":"A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508523/","orphanet_url":"https://www.orpha.net/en/disease/detail/508523","names":{"fr":{"name":"Hyperphénylalaninémie par déficit en DNAJC12","synonyms":["Hyperphénylalaninémie non-phénylcétonurique-non-déficit en BH4"],"definition":"Erreur innée du métabolisme rare caractérisée par une augmentation de la phénylalanine sérique, associée à des atteintes neurologiques variables oscillant entre des signes cliniques autistiques légers ou une hyperactivité et une déficience intellectuelle sévère, une dystonie et un parkinsonisme. Les examens biologiques mettent en évidence un métabolisme normal de la tétrahydrobioptérine (BH4) et de faibles taux des métabolites des neurotransmetteurs monoamines dans le liquide céphalo-rachidien, l'acide homovanillique et l'acide 5-hydroxyindoleacétique."},"de":{"name":"Hyperphenylalaninämie durch DNAJC12-Mangel","synonyms":["Nicht-phenylketonurische Hyperphenylalaninämie ohne BH4-Mangel"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch einen erhöhten Phenylalaninspiegel im Serum gekennzeichnet ist und mit unterschiedlichen neurologischen Symptomen einhergeht, die von leichten autistischen Zügen oder Hyperaktivität bis hin zu schwerer Intelligenzminderung, Dystonie und Parkinsonismus reichen. Laboranalysen zeigen einen normalen Tetrahydrobiopterin (BH4)-Stoffwechsel und niedrige Konzentrationen der Monoamin-Neurotransmitter-Metaboliten Homovanillinsäure und 5-Hydroxyindolessigsäure im Liquor."},"es":{"name":"Hiperfenilalaninemia por deficiencia de DNAJC12","synonyms":["Hiperfenilalaninemia no fenilcetonúrica sin deficiencia de BH4"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por un aumento de los niveles séricos de fenilalanina, asociado a unos síntomas neurológicos que pueden variar desde rasgos autistas leves o hiperactividad hasta una grave discapacidad intelectual, distonía y parkinsonismo. Las pruebas de laboratorio muestran un metabolismo normal de la tetrahidrobiopterina (BH4) y niveles bajos en el LCR de los metabolitos de los neurotransmisores monoamina: el ácido homovanílico y el ácido 5-hidroxiindolacético."},"it":{"name":"Iperfenilalaninemia da deficit di DNAJC12","synonyms":["Iperfenilalaninemia non-fenilchetonurica non correlata a deficit di BH4"],"definition":"Si tratta di un raro errore congenito del metabolismo, caratterizzato da un aumento della fenilalanina nel siero, associato a sintomi neurologici variabili, che comprendono i tratti autistici lievi e l'iperattività, fino alla disabilità intellettiva grave, alla distonia e al parkinsonismo. Gli esami di laboratorio evidenziano un metabolismo normale della tetraidrobiopterina (BH4) e livelli ridotti dei metaboliti del neurotrasmettitore monoamminico nel liquido cerebrospinale (acido omovanillico e acido 5-idrossiindolacetico)."},"nl":{"name":"Hyperfenylalaninemie door DNAJC12-deficiëntie","synonyms":["Niet-fenylketonurische hyperfenylalaninemie zonder BH4-deficiëntie"],"definition":"Een zeldzaam, aangeboren defect van stofwisseling, gekarakteriseerd door verhoogd gehalte van fenylalanine in serum, geassocieerd met variabele neurologische symptomen gaande van milde autistische kenmerken of hyperactiviteit tot ernstige intellectuele achterstand, dystonie, en parkinsonisme. Laboratoriumanalyses tonen normaal metabolisme van tetrahydrobiopterine (BH4) en lage gehaltes van homovanillinezuur en 5-hydroxyindolazijnzuur, metabolieten van CSV monoamine neurotransmitters."},"pt":{"name":"Hiperfenilalaninemia por deficiência de DNAJC12","synonyms":["Hiperfenilalaninemia não-fenilcetonúrica sem deficiência de BH4"]},"pl":{"name":"Hiperfenylalaninemia spowodowana niedoborem DNAJC12","synonyms":["Hiperfenylalaninemia inna niż fenyloketonuria i niedobór BH4"]},"cs":{"name":"Hyperfenylalaninemie způsobená deficitem DNAJC12","synonyms":["Hyperfenylalaninemie - nonfenylketonurická a non-BH4-deficitní"]},"uk":{"name":"Гіперфенілаланінемія, зумовлена дефіцитом DNAJC12","synonyms":["Нефенілкетонурична не-BH4-дефіцитна гіперфенілаланінемія"],"definition":"A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid."},"zh":{"name":"DNAJC12基因缺陷导致高苯丙氨酸血症","synonyms":["非苯丙酮尿症性非BH4缺乏性高苯丙氨酸血症"],"definition":"一种罕见的先天性代谢缺陷，其特征是血清苯丙氨酸增加，与各种神经系统症状有关，从轻度自闭症或极度活跃到严重的智力障碍、肌张力障碍和帕金森病。实验室分析显示四氢生物喋呤（BH4）代谢正常，CSF单胺类神经递质代谢物高香草酸和5-羟基吲哚乙酸水平较低。"},"tr":{"name":"DNAJC12 eksikliğine bağlı hiperfenilalaninemi","synonyms":["Fenilketonürik olmayan BH4 eksikliği olmayan hiperfenilalaninemi"]}},"xrefs":[{"source":"OMIM","code":"617384","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.01","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0044304","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567900","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309819,"name":"Disorder of pterin metabolism","classifications":[150,156,181]},{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DNAJC12","name":"DnaJ heat shock protein family (Hsp40) member C12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28132689[PMID]","hgnc":"28908","ensembl":"ENSG00000108176","omim":"606060","loci":["10q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28132689[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"28132689[PMID]"}],"phenotypes":null}