{"orpha":51188,"name":"Ethylmalonic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, early-onset, progressive neurologic disease characterized by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-51188/","orphanet_url":"https://www.orpha.net/en/disease/detail/51188","names":{"fr":{"name":"Encéphalopathie éthylmalonique","definition":"Maladie neurologique rare, progressive et à début précoce, caractérisée par une excrétion élevée d'acide éthylmalonique, des pétéchies récurrentes, une acrocyanose orthostatique et une diarrhée chronique associées à un retard de développement neurologique, une régression psychomotrice et une hypotonie avec des anomalies à l'IRM cérébrale."},"de":{"name":"Ethylmalonsäure-Enzephalopathie","definition":"Eine seltene, früh einsetzende, progressive neurologische Erkrankung, die durch eine erhöhte Ausscheidung von Ethylmalonsäure (EMA) mit rezidivierenden Petechien, orthostatischer Akrozyanose und chronischem Durchfall gekennzeichnet ist und mit einer Neurologischen Entwicklungsverzögerung, psychomotorischer Regression und Hypotonie mit Anomalien in der Magnetresonanztomographie (MRT) des Gehirns einhergeht."},"es":{"name":"Encefalopatía etilmalónica","definition":"Es una enfermedad neurológica progresiva poco frecuente, de aparición precoz, caracterizada por una excreción elevada de ácido etilmalónico (AEM) con petequias recurrentes, acrocianosis ortostática y diarrea crónica asociada a retraso del desarrollo neurológico, regresión psicomotora e hipotonía con anomalías en los estudios de imagen por resonancia magnética (RM) cerebral."},"it":{"name":"Encefalopatia etilmalonica"},"nl":{"name":"Ethylmalonencefalopathie","definition":"Een zeldzame, vroeg optredende, progressieve neurologische aandoening, gekenmerkt door verhoogde excretie van ethylmalonzuur (EMA) met recidiverende petechiën, orthostatische acrocyanose en chronische diarree, geassocieerd met neurologische ontwikkelingsachterstand, psychomotorische regressie en hypotonie met afwijkingen bij beeldvorming met magnetische resonantie van hersenen."},"pt":{"name":"Encefalopatia etilmalónica","definition":"Doença neurológica rara, progressiva e de início precoce, caracterizada por excreção elevada de ácido etilmalónico (EMA) com petéquias recorrentes, acrocianose ortostática e diarreia crónica associada a atraso no desenvolvimento neurológico, regressão psicomotora e hipotonia com anomalias na ressonância magnética (RM) do cérebro."},"pl":{"name":"Encefalopatia etylomalonowa"},"cs":{"name":"Ethylmalonová encefalopatie"},"uk":{"name":"Етилмалонова енцефалопатія","definition":"A rare, early-onset, progressive neurologic disease characterized by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities."},"zh":{"name":"乙基丙二酸脑病"},"tr":{"name":"Etilmalonik ensefalopati"}},"xrefs":[{"source":"OMIM","code":"602473","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1966714550"},{"source":"MONDO","code":"0011229","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865349","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2198","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":254837,"name":"Unspecified mitochondrial disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ETHE1","name":"ETHE1 persulfide dioxygenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18593870[PMID]","hgnc":"23287","ensembl":"ENSG00000105755","omim":"608451","loci":["19q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"28933811[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28933811[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-11","source":"20528888[PMID]_1683940[PMID]","terms":[{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003219","label":"Ethylmalonic aciduria","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012841","label":"Retinal vascular tortuosity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012747","label":"Abnormal brainstem MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null}]}}