{"orpha":3006,"name":"Pyridoxine-dependent-developmental and epileptic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Antiquitin deficiency","PD-DEE","Vitamin B6-dependent seizures"],"definition":"A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3006/","orphanet_url":"https://www.orpha.net/en/disease/detail/3006","names":{"fr":{"name":"Encéphalopathie développementale et épileptique pyridoxino-dépendante","synonyms":["Déficit en antiquitine","Epilepsie vitamine B6-dépendante","PD-DEE"],"definition":"Maladie neurométabolique rare caractérisée par des convulsions pharmacorésistantes récurrentes, mais sensibles aux doses pharmacologiques de pyridoxine (vitamine B6), se présentant au cours des périodes prénatale, néonatale et post-natale."},"de":{"name":"Pyridoxin-abhängige entwicklungsbedingte und epileptische Enzephalopathie","synonyms":["Antiquitin-Defizienz","Antiquitin-Mangel","PD-DEE","Pyridoxinabhängige Krämpfe (PDS)","Vitamin B6-abhängige Anfälle"],"definition":"Die Pyridoxin-abhängige Epilepsie (PDE) ist eine seltene neurometabolische Erkrankung, die durch wiederholte, schwer behandelbare Krampfanfälle bereits pränatal oder beim Neugeborenen charakterisiert ist, die nicht auf eine medikamentöse Behandlung mit Antikonvulsiva, jedoch auf eine Therapie mit Pyridoxin (Vitamin B6) ansprechen."},"es":{"name":"Encefalopatía epiléptica y del desarrollo dependiente de piridoxina","synonyms":["Crisis dependientes de vitamina B6","Deficiencia de antiquitina","EED dependiente de piridoxina"],"definition":"Es una enfermedad neurometabólica poco frecuente, caracterizada por convulsiones recurrentes intratables durante el periodo prenatal, neonatal y postnatal que son resistentes a los fármacos antiepilépticos (FAE) pero responden a dosis farmacológicas de piridoxina (vitamina B6)."},"it":{"name":"Epilessia dipendente dalla piridossina","synonyms":["Convulsioni dipendenti dalla vitamina B6","Deficit di antiquitina"],"definition":"L'epilessia dipendente dalla piridossina (PDE) è una malattia neurometabolica rara, caratterizzata da crisi epilettiche ricorrenti non trattabili nel periodo prenatale, neonatale o postnatale, resistenti ai farmaci antiepilettici (AED), che rispondono a dosi farmacologiche di piridossina (vitamina B6)."},"nl":{"name":"Pyridoxineafhankelijke epileptische encefalopathie met ontwikkelingsstoornis","synonyms":["Antiquitinedeficiëntie","PD-DEE","Vitamine B6-afhankelijke insulten"],"definition":"Een zeldzame, neurometabole ziekte, gekarakteriseerd door recidiverende, refractaire insulten in de prenatale, neonatale en postnatale periode die resistent zijn tegen anti-epileptica (AED's) maar wel reageren op farmacologische doseringen van pyridoxine (vitamine B6)."},"pt":{"name":"Encefalopatia epiléptica e do desenvolvimento piridoxina-dependente","synonyms":["Deficiência de antiquitina","Epilepsia sensível à vitamina B6","PD-DEE"]},"pl":{"name":"Padaczka zależna od pirydoksyny","synonyms":["Napady padaczkowe zależne od witaminy B6","Niedobór antykwityny"]},"cs":{"name":"Pyridoxin-dependentní epilepsie","synonyms":["Deficit antiquitinu","Pyridoxin-responzivní křeče"]},"uk":{"name":"Піридоксинзалежна епілепсія","synonyms":["Дефіцит антиквітину","Вітамін В6-залежні судоми"],"definition":"A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)."},"zh":{"name":"维生素B6依赖性癫痫","synonyms":["维生素B6依赖性癫痫"]},"tr":{"name":"Piridoksine bağımlı epilepsi","synonyms":["Antikitin eksikliği","B6 vitaminine bağımlı nöbetler"]}},"xrefs":[{"source":"OMIM","code":"266100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617290","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.8","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8A61.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1952154349"},{"source":"MONDO","code":"0009945","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536254","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849508","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9298","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79192,"name":"Disorder of pyridoxine metabolism","classifications":[150,156]},{"orpha":225707,"name":"Metabolic neurotransmission anomaly with epilepsy","classifications":[156,181]},{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALDH7A1","name":"aldehyde dehydrogenase 7 family member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301659[PMID]","hgnc":"877","ensembl":"ENSG00000164904","omim":"107323","loci":["5q23.2"]},{"symbol":"PLPBP","name":"pyridoxal phosphate binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27912044[PMID]","hgnc":"9457","ensembl":"ENSG00000147471","omim":"604436","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"United Kingdom","status":"Validated","source":"10519720[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Netherlands","status":"Validated","source":"16159904[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Germany","status":"Not yet validated","source":"10356240[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-08","source":"31737911[PMID]_33200442[PMID]_20301659[PMID]","terms":[{"hpo":"HP:0001250","label":"Seizure","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010851","label":"EEG with burst suppression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011152","label":"Early onset absence seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025116","label":"Fetal distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020217","label":"Focal aware motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030917","label":"Low APGAR score","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001557","label":"Prenatal movement abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002188","label":"Delayed CNS myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011199","label":"EEG with generalized sharp slow waves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011166","label":"Focal myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012420","label":"Meconium stained amniotic fluid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very rare (<4-1%)","criteria":null}]}}