{"orpha":209370,"name":"MECP2-related severe neonatal encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Severe congenital encephalopathy due to MECP2 mutation"],"definition":"Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209370/","orphanet_url":"https://www.orpha.net/en/disease/detail/209370","names":{"fr":{"name":"Encéphalopathie néonatale sévère liée à la protéine MECP2","synonyms":["Encéphalopathie congénitale sévère due à une mutation du gène MECP2"],"definition":"Une maladie monogénique rare avec épilepsie caractérisée par une encéphalopathie néonatale, une microcéphalie, un retard de développement sévère ou une absence de développement, des troubles respiratoires (dont une hypoventilation centrale et/ou une insuffisance respiratoire), des convulsions réfractaires au traitement, des troubles de la tonicité musculaire et des mouvements involontaires. La maladie est habituellement fatale précocement."},"de":{"name":"MECP2-assoziierte schwere neonatale Enzephalopathie","synonyms":["Enzephalopathie, kongenitale schwere, durch MECP2-Genmutation"]},"es":{"name":"Encefalopatía neonatal grave asociada a MECP2","synonyms":["Encefalopatía congénita grave por una mutación del gen MECP2"],"definition":"Es una enfermedad monogénica con epilepsia poco frecuente caracterizada por encefalopatía de inicio neonatal, microcefalia, retraso grave o ausencia del desarrollo, alteraciones respiratorias (que incluyen hipoventilación central y/o insuficiencia respiratoria), crisis intratables, tono muscular anómalo y movimientos involuntarios. Es habitual el fallecimiento prematuro."},"it":{"name":"Encefalopatia neonatale grave correlata a MECP2","synonyms":["Encefalopatia congenita grave da mutazione di MECP2"],"definition":"L'encefalopatia grave ad esordio neonatale con microcefalia è una malattia monogenica rara associata ad epilessia; è caratterizzata da encefalopatia ad esordio neonatale, microcefalia, mancato o ritardato sviluppo, anomalie respiratorie (ipoventilazione centrale e/o insufficienza respiratoria), crisi epilettiche intrattabili, anomalie del tono muscolare e dei movimenti involontari. È comune la morte prematura."},"nl":{"name":"MECP2-gerelateerde ernstige neonatale encefalopathie","synonyms":["Ernstige congenitale encefalopathie door MECP2-mutatie"],"definition":"Ernstige encefalopathie met microcefalie met neonatale aanvang is een zeldzame monogene ziekte met epilepsie, en wordt gekarakteriseerd door neonataal aanvangende encefalopathie, microcefalie, ernstige ontwikkelingsachterstand of afwezigheid van ontwikkeling, afwijkingen van de ademhaling (waaronder centrale hypoventilatie en/of respiratoire insufficiëntie), refractaire insulten, abnormale spiertonus en onvrijwillige bewegingen. Vroegtijdig overlijden is gangbaar."},"pt":{"name":"Encefalopatia grave de apresentação neo-natal com microcefalia"},"pl":{"name":"Ciężka encefalopatia noworodków związana z MECP2","synonyms":["Severe congenital encephalopathy due to MECP2 mutation"]},"cs":{"name":"Těžká novorozenecká encefalopatie s mikrocefalií","synonyms":["Těžká vrozená encefalopatie způsobená mutací MECP2"]},"uk":{"name":"Тяжка неонатальна енцефалопатія з мікроцефалією","synonyms":["Тяжка вроджена енцефалопатія внаслідок мутації MECP2"],"definition":"Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual."},"zh":{"name":"重度新生儿期起病的脑病伴小头畸形","synonyms":["MECP2基因突变所致重度先天性脑病"],"definition":"新生儿重度脑病伴小头畸形是一种罕见的单基因癫痫病，其主要临床表现为新生儿起病的脑病、小头畸形、重度发育迟滞或发育不全、呼吸功能异常（包括中枢性通气不足和/或呼吸功能不全）、难治性惊厥、肌张力异常和不自主运动，常出现夭折。"},"tr":{"name":"Mikrosefali ile seyreden ağır yenidoğan başlangıçlı ensefalopati","synonyms":["MECP2 mutasyonuna bağlı ağır doğumsal ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"300673","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"240602582"},{"source":"MONDO","code":"0010397","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1968556","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MECP2","name":"methyl-CpG binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18477000[PMID]_20301670[PMID]","hgnc":"6990","ensembl":"ENSG00000169057","omim":"300005","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-12-14","source":"34271245[PMID]_18477000[PMID]_20301670[PMID]_16832102[PMID]","terms":[{"hpo":"HP:0002104","label":"Apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010843","label":"EEG with focal slow activity","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:0008935","label":"Generalized neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null}]}}