{"orpha":279934,"name":"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-279934/","orphanet_url":"https://www.orpha.net/en/disease/detail/279934","names":{"fr":{"name":"Déplétion de l'ADN mitochondrial, forme hépatocérébrale par déficit en DGUOK","definition":"Maladie immunitaire rare caractérisée par une diminution marquée du nombre de copies d'ADNmt due à un déficit en DGUOK se manifestant généralement par un dysfonctionnement hépatique précoce, un retard psychomoteur, une hypotonie, un nystagmus rotatif qui se transforme en opsoclonus, une acidose lactique et une hypoglycémie."},"de":{"name":"Mitochondriales DNA-Depletions-Syndrom, hepatozerebrale Form durch DGUOK-Mangel","definition":"Eine seltene Immunkrankheit, die durch den Verlust mitochondrialer DNA aufgrund eines DGUOK-Mangels gekennzeichnet ist und sich typischerweise durch eine früh einsetzende Leberfunktionsstörung, psychomotorische Verzögerung, Hypotonie, Rotationsnystagmus, der sich zu Opsoklonus entwickelt, Laktatazidose und Hypoglykämie manifestiert."},"es":{"name":"Síndrome de depleción del ADN mitocondrial, forma hepatocerebral por deficiencia de DGUOK","definition":"Es una enfermedad inmunitaria poco frecuente caracterizada por una reducción importante del contenido de ADN mitocondrial debido a una deficiencia de DGUOK que se manifiesta habitualmente con insuficiencia hepática de inicio temprano, retraso psicomotor, hipotonía, nistagmo rotatorio que evoluciona a opsoclonía, acidosis láctica e hipoglucemia."},"it":{"name":"Sindrome da deplezione del DNA mitocondriale, forma epatocerebrale da deficit di DGUOK","definition":"La sindrome da deplezione del DNA mitocondriale forma epatocerebrale da deficit di DGUOK (DGUOK-MDS) è una malattia immunologica rara, caratterizzata da marcata riduzione del contenuto del DNA mitocondriale, causata da un deficit di DGUOK. Di solito la malattia esordisce con disfunzione epatica ad esordio precoce, ritardo psicomotorio, ipotonia, nistagmo rotatorio che evolve verso l'opsoclono, acidosi lattica e ipoglicemia."},"nl":{"name":"Mitochondriaal DNA-depletiesyndroom, hepatocerebrale vorm door DGUOK-deficiëntie","definition":"Een zeldzame immuunziekte, gekarakteriseerd door een ernstig gereduceerde hoeveelheid mitochondriaal DNA als gevolg van DGUOK-deficiëntie, wat zich doorgaans manifesteert met vroeg aanvangende disfunctie van lever, psychomotorische achterstand, hypotonie, rotatoire nystagmus die ontwikkelt tot opsoclonus, lactaatacidose en hypoglycemie."},"pt":{"name":"Síndrome de depleção de ADN mitocondrial, forma hepatocerebral por deficiência de DGUOK"},"pl":{"name":"Zespół deplecji mitochondrialnego DNA, postać wątrobowo-mózgowa z powodu niedoboru DGUOK"},"cs":{"name":"Syndrom mitochondriální DNA deplece, hepatocerebrální forma způsobená deficitem DGUOK"},"uk":{"name":"Синдром виснаження мітохондріальної ДНК, гепатоцеребральна форма внаслідок дефіциту DGUOK","definition":"A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia."},"zh":{"name":"DGUOK基因缺陷所致线粒体DNA缺失综合征，肝脑型","definition":"DGUOK基因缺陷所致线粒体DNA缺失综合征，肝脑型是一种罕见的免疫性疾病，其特征是由于DGUOK基因缺陷导致线粒体DNA含量明显降低，典型表现为早发性肝功能不全、精神运动迟缓、张力减退、旋转性眼球震颤而导致斜视眼阵挛、乳酸酸中毒和低血糖。"},"tr":{"name":"Mitokondriyal DNA tükenme sendromu, DGUOK eksikliğine bağlı hepatoserebral form"}},"xrefs":[{"source":"OMIM","code":"251880","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.20","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191055","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13644","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":254871,"name":"Mitochondrial DNA depletion syndrome, hepatocerebral form","classifications":[150,156,183]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DGUOK","name":"deoxyguanosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301766[PMID]","hgnc":"2858","ensembl":"ENSG00000114956","omim":"601465","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"29137425[PMID]_[EXPERT]"}],"phenotypes":null}