{"orpha":500144,"name":"Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome","PEBAS"],"definition":"A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500144/","orphanet_url":"https://www.orpha.net/en/disease/detail/500144","names":{"fr":{"name":"Syndrome à début précoce d'encéphalopathie progressive-surdité-hypoplasie du pont-atrophie cérébrale","synonyms":["PEBAS","Syndrome à début précoce d'encéphalopathie progressive-atrophie cérébrale-spasticité"],"definition":"Maladie neurologique rare, d'origine génétique, caractérisée par un retard de développement global sévère à début précoce avec régression, une microcéphalie congénitale ou acquise, une surdité, une hypotonie du tronc, une spasticité des membres, une dystonie et/ou des myoclonies."},"de":{"name":"Früh-beginnende progressive Enzephalopathie-Hörverlust-Ponshypoplasie-Hirnatrophie-Syndrom","synonyms":["Syndrom der früh einsetzenden progressiven Enzephalopathie mit Hirnatrophie und Spastik","PEBAS"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die durch eine früh einsetzende schwere globale Entwicklungsverzögerung mit Regression, angeborene oder erworbene Mikrozephalie, Schwerhörigkeit, Stammhypotonie, appendikuläre Spastizität und Dystonie und/oder Myoklonus gekennzeichnet ist."},"es":{"name":"Síndrome de encefalopatía progresiva-hipoacusia-hipoplasia pontina-atrofia cerebral de inicio precoz","synonyms":["PEBAS","Síndrome de encefalopatía progresiva-atrofia cerebral-espasticidad de inicio precoz"],"definition":"Es un trastorno neurológico poco frecuente y de origen genético caracterizado por un grave retraso global del desarrollo de inicio temprano con regresión, microcefalia congénita o adquirida, hipoacusia, hipotonía troncal, espasticidad apendicular y distonía y/o mioclonías."},"it":{"name":"Sindrome encefalopatia progressiva a esordio precoce-ipoacusia-ipoplasia del ponte-atrofia cerebrale","synonyms":["PEBAS","Sindrome da encefalopatia progressiva ad esordio precoce-atrofia cerebrale-spasticità"],"definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da grave ritardo dello sviluppo globale ad esordio precoce con regressione, microcefalia congenita o acquisita, ipoacusia, ipotonia del tronco, spasticità appendicolare e distonia e/o mioclono. I pazienti possono presentare anche crisi epilettiche, atrofia ottica, compromissione della vista di origine corticale, scoliosi e disfagia. Le neuroimmagini evidenziano ipoplasia del ponte, agenesia parziale del corpo calloso e atrofia cerebrale diffusa che risparmia relativamente il cervelletto."},"nl":{"name":"Vroeg optredende progressieve encefalopathie - gehoorverlies - hypoplasie van pons - hersenatrofie-syndroom","synonyms":["PEBAS","Vroeg optredende progressieve encefalopathie - hersenatrofie - spasticiteit-syndroom"],"definition":"Een zeldzame, genetische neurologische aandoening, gekenmerkt door vroege aanvang van ernstige algehele ontwikkelingsachterstand met regressie, congenitale of verworven microcefalie, gehoorverlies, hypotonie van romp, appendiculaire spasticiteit, en dystonie en/of myoclonus."},"pt":{"name":"Síndrome de encefalopatia progressiva de início precoce-perda auditiva-hipoplasia pontina-atrofia cerebral","synonyms":["PEBAS","Síndrome de encefalopatia progressiva de início precoce-atrofia cerebral-espasticidade"],"definition":"Doença neurológica genética rara, caracterizada por perturbação grave no desenvolvimento de início precoce com regressão, microcefalia congénita ou adquirida, perda auditiva, hipotonia troncular, espasticidade apendicular e distonia e/ou mioclonia"},"pl":{"name":"Zespół wczesnej i postępującej encefalopatii, niedosłuchu, hipoplazji mostu i atrofii mózgu","synonyms":["Zespół postępującej encefalopatii o wczesnym początku, utraty słuchu, hipoplazji mostu i zaniku mózgu"]},"cs":{"name":"Syndrom zahrnující progresivní encefalopatii, ztrátu sluchu, hypoplázii pontu a atrofii mozku s časným nástupem","synonyms":["Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome","PEBAS"]},"uk":{"name":"Синдром ранньої прогресуючої енцефалопатії-втрати слуху-гіпоплазії мозочка-атрофії мозку","synonyms":["Синдром ранньої прогресуючої енцефалопатії - атрофії-спастичності головного мозку","PEBAS"],"definition":"A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus."},"zh":{"name":"早发性进行性脑病-听力减退-桥脑发育不全-脑萎缩综合征"},"tr":{"name":"Erken başlangıçlı ilerleyici ensefalopati-işitme kaybı-pons hipoplazi-beyin atrofi sendromu"}},"xrefs":[{"source":"OMIM","code":"617669","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044696","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"TRAPPC12","name":"trafficking protein particle complex subunit 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28777934[PMID]","hgnc":"24284","ensembl":"ENSG00000171853","omim":"614139","loci":["2p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28777934[PMID]_32347653[PMID]_32369837[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28777934[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-17","source":"28777934[PMID]","terms":[{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007096","label":"Hypoplasia of the optic tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012796","label":"Increased cup-to-disc ratio","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Occasional (29-5%)","criteria":null}]}}