{"orpha":438213,"name":"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438213/","orphanet_url":"https://www.orpha.net/en/disease/detail/438213","names":{"fr":{"name":"Syndrome d'hypotonie-épilepsie-encéphalopathie sévère neonatale associé à PURA","definition":"Maladie neurologique rare caractérisée par une hypotonie néonatale, un retard de développement global, des difficultés à s'alimenter et souvent des crises d'épilepsie ou des épisodes ressemblant à des crises d'épilepsie. Les autres signes cliniques et symptômes fréquemment observés sont la dysmorphie faciale, un faciès myopathique, des atteintes respiratoires et des anomalies visuelles, telles que le strabisme ou l'ésotropie. L'IRM peut mettre en évidence un retard de myélinisation et d'autres anomalies de la substance blanche."},"de":{"name":"PURA-abhängige schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom","definition":"Eine seltene neurologische Erkrankung, die durch neonatale Hypotonie, globale Entwicklungsverzögerung, Ernährungsschwierigkeiten und häufig durch Krampfanfälle oder anfallsartige Episoden gekennzeichnet ist. Andere häufig beobachtete Anzeichen und Symptome sind variable dysmorphe Merkmale, myopathische Fazies, Atembeschwerden und visuelle Anomalien wie Schielen oder Esotropie. Die Hirnbildgebung kann eine verzögerte Myelinisierung und andere Anomalien der weißen Substanz zeigen."},"es":{"name":"Síndrome neonatal de hipotonía-crisis-encefalopatía grave asociado a PURA","definition":"Es una enfermedad neurológica poco frecuente caracterizada por hipotonía neonatal, retraso global del desarrollo psicomotor, dificultades para alimentarse y, a menudo, crisis o episodios tipo crisis. Otros signos y síntomas frecuentemente descritos incluyen características dismórficas variables, facies miopática, problemas respiratorios y anomalías visuales, como estrabismo o esotropía. Las imágenes cerebrales pueden mostrar un retraso de la mielinización y otras anomalías de la sustancia blanca."},"it":{"name":"Sindrome ipotonia neonatale grave-crisi epilettiche-encefalopatia correlata a PURA","definition":"Si tratta di una malattia neurologica rara, caratterizzata da ipotonia neonatale, ritardo dello sviluppo globale, difficoltà di alimentazione e, spesso, crisi epilettiche o episodi simil-epilettici. Altri segni clinici comuni sono i dismorfismi facciali, la facies miopatica, i problemi respiratori e le anomalie della vista (strabismo o esotropia). Le neuroimmagini mostrano un ritardo della mielinizzazione e altre anomalie della sostanza bianca."},"nl":{"name":"PURA-gerelateerde ernstige neonatale hypotonie - insulten - encefalopathie-syndroom","definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door neonatale hypotonie, algehele ontwikkelingsachterstand, voedingsproblemen, en vaak insulten of insultachtige episodes. Overige frequent geobserveerde verschijnselen en symptomen zijn onder meer variabele dysmorfe kenmerken, myopathisch aangezicht, respiratoire problemen, en visuele afwijkingen, zoals strabisme of esotropie. Beeldvorming van hersenen toont mogelijk vertraagde myelinisatie en andere afwijkingen van witte stof."},"pt":{"name":"Síndrome de hipotonia neonatal grave-convulsões-encefalopatia PURA-relacionada"},"pl":{"name":"Zespół ciężkiej hipotonii noworodkowej, napadów padaczkowych i encefalopatii zależny od PURA"},"cs":{"name":"Syndrom zahrnující PURA-vázanou těžkou neonatální hypotonii, záchvaty a encefalopatii"},"uk":{"name":"Синдром тяжкої неонатальної гіпотонії-судом-енцефалопатії, повязаний з PURA","definition":"A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities."},"zh":{"name":"PURA相关性严重新生儿肌张力低下-癫痫-脑病综合征","definition":"一种罕见的神经系统疾病，其特征是新生儿肌张力低下，整体发育迟缓，进食困难，并经常发作或癫痫发作。其他经常观察到的体征和症状包括多种畸形，肌病面容，呼吸系统问题和视觉异常，例如斜视或内斜视。脑部成像可能显示出髓鞘延迟和其他白质异常。"},"tr":{"name":"PURA-ilişkili ağır Yenidoğan hipotoni-nöbetler-ensefalopati sendromu"}},"xrefs":[{"source":"OMIM","code":"616158","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018580","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"1060108","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18580","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4708498","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085882","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":438216,"name":"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation","type":"Etiological subtype"},{"orpha":314655,"name":"Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PURA","name":"purine rich element binding protein A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25342064[PMID]","hgnc":"9701","ensembl":"ENSG00000185129","omim":"600473","loci":["5q31.3"],"via":{"orpha":438216,"name":"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"}},{"symbol":"PURA","name":"purine rich element binding protein A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23950017[PMID]","hgnc":"9701","ensembl":"ENSG00000185129","omim":"600473","loci":["5q31.3"],"via":{"orpha":314655,"name":"Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"}}],"inheritance":["Autosomal dominant","Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"27148565[PMID]_25533962[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27148565[PMID]_25533962[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-11","source":"29097605[PMID]_28448108[PMID]","terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000549","label":"Abnormal conjugate eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005957","label":"Breathing dysregulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010863","label":"Receptive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100247","label":"Recurrent singultus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000977","label":"Soft skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031622","label":"Brown anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007655","label":"Eversion of lateral third of lower eyelids","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025313","label":"Exophoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007193","label":"Generalized tonic-clonic seizures on awakening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011747","label":"Abnormality of the anterior pituitary","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031253","label":"Anomalous origin of left subclavian artery","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040303","label":"Decreased serum iron","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000139","label":"Uterine prolapse","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very rare (<4-1%)","criteria":null}]}}