{"orpha":726,"name":"Alpers-Huttenlocher syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpers progressive sclerosing poliodystrophy","Alpers syndrome","Progressive neuronal degeneration of childhood with liver disease"],"definition":"A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-726/","orphanet_url":"https://www.orpha.net/en/disease/detail/726","names":{"fr":{"name":"Syndrome d'Alpers-Huttenlocher","synonyms":["Dégénérescence neuronale progressive de l'enfant avec maladie du foie","Polydystrophie sclérosante progressive d'Alpers","Syndrome d'Alpers"],"definition":"Une cérébrohépatopathie et une forme rare et sévère du syndrome de déplétion de l'ADN mitochondrial (ADNmt). Il se caractérise par la triade : régression progressive du développement, convulsions intraitables et insuffisance hépatique."},"de":{"name":"Alpers-Huttenlocher-Syndrom","synonyms":["Alpers-Syndrom","Progressive neuronale Degeneration im Kindesalter mit Lebererkrankung","Progressive sklerosierende Poliodystrophie Alpers"]},"es":{"name":"Síndrome de Alpers-Huttenlocher","synonyms":["Degeneración neuronal progresiva de la infancia con enfermedad hepática","Polidistrofia esclerosante progresiva de Alpers","Síndrome de Alpers"],"definition":"Es una cerebrohepatopatía y una forma grave y poco frecuente del síndrome de depleción del ADN mitocondrial (ADNmt) caracterizada por la tríada de regresión progresiva del desarrollo, crisis epilépticas intratables e insuficiencia hepática."},"it":{"name":"Sindrome di Alpers-Huttenlocher","synonyms":["Degenerazione neuronale progressiva dell'infanzia associata a malatia epatica","Polidistrofia sclerosante progressiva di Alpers","Sindrome di Alpers"],"definition":"La sindrome di Alpers Huttenlocher (AHS) è una cerebro-epatopatia ed una forma rara e grave di sindrome da deplezione del DNA mitocondriale (mtDNA), caratterizzata dalla triade regressione progressiva dello sviluppo, crisi epilettiche non trattabili e insufficienza epatica."},"nl":{"name":"Syndroom van Alpers-Huttenlocher","synonyms":["Alpers progressieve scleroserende poliodystrofie","Alpers-Huttenlochersyndroom","Alperssyndroom","Progressieve neuronale degeneratie in de kinderjaren met leverziekte","Syndroom van Alpers"],"definition":"Een cerebrohepatopathie en een zeldzame en ernstige vorm van mitochondriaal DNA (mtDNA)-depletiesyndroom, gekarakteriseerd door de triade van progressieve ontwikkelingsregressie, refractaire insulten en leverfalen."},"pt":{"name":"Síndrome Alpers-Huttenlocher","synonyms":["Síndrome Alpers"]},"pl":{"name":"Zespół Alpersa i Huttenlochera","synonyms":["Dziecięce postępujące zwyrodnienie neuronalne z chorobą wątroby","Postępująca stwardniająca poliodystrofia Alpersa","Zespół Alpersa"]},"cs":{"name":"Alpersův-Huttenlocherův syndrom","synonyms":["Alpersova progresivní sklerózní poliodystrofie","Progresivní infantilní neuronální degenerace s postižením jater","Alpersův syndrom","Alpers-Huttenlocherův syndrom"]},"uk":{"name":"Синдром Альперса-Гуттенлохера","synonyms":["Альпійська прогресуюча склерозуюча поліодистрофія","Синдром Альперса","Прогресуюча дегенерація нейронів у дітей із захворюваннями печінки"],"definition":"A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure."},"zh":{"name":"Alpers-Huttenlocher综合征","synonyms":["儿童进行性神经元变性伴肝病"]},"tr":{"name":"Alpers-Huttenlocher sendromu","synonyms":["Alpers sendromu","Alpers ilerleyici sklerozan poliodistrofi","Karaciğer hastalığı olan çocukluk dönemi ilerleyici nöronal dejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"203700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C53.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"664465901"},{"source":"MONDO","code":"0008758","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0205710","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5783","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":254871,"name":"Mitochondrial DNA depletion syndrome, hepatocerebral form","classifications":[150,156,183]},{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POLG","name":"DNA polymerase gamma, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22237560[PMID]_22000311[PMID]_23545419[PMID]","hgnc":"9179","ensembl":"ENSG00000140521","omim":"174763","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"19766516[PMID]_Pr Robert NAVIAUX[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of 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:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null}]}}