{"orpha":254871,"name":"Mitochondrial DNA depletion syndrome, hepatocerebral form","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Deoxyguanosine kinase deficiency","mtDNA depletion syndrome, hepatocerebral form"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-254871/","orphanet_url":"https://www.orpha.net/en/disease/detail/254871","names":{"fr":{"name":"Déplétion de l'ADN mitochondrial, forme hépatocérébrale","synonyms":["Déficit en deoxyguanosine kinase","Déplétion de l'ADNmt, forme hépatocérébrale"]},"de":{"name":"Mitochondriales DNA-Depletionssyndrom, hepatozerebrale Form","synonyms":["Deoxyguanosin-Kinase-Mangel","mtDNA-Depletionssyndrom, hepatozerebrales"]},"es":{"name":"Síndrome de depleción del ADN mitocondrial, forma hepatocerebral","synonyms":["Deficiencia en desoxiguanosina quinasa","Síndrome de depleción del ADNmt, forma hepatocerebral"]},"it":{"name":"Sindrome da deplezione del DNA mitocondriale, forma epatocerebrale","synonyms":["Sindrome da deplezione del mtDNA, forma epatocerebrale"]},"nl":{"name":"Mitochondriaal DNA-depletiesyndroom, hepatocerebrale vorm","synonyms":["Deoxyguanosinekinasedeficiëntie","mtDNA-depletiesyndroom, hepatocerebrale vorm"]},"pt":{"name":"Síndrome de depleção do ADN mitocondrial, forma hepatocerebral","synonyms":["Síndrome de depleção do ADNmt, forma hepatocerebral"]},"pl":{"name":"Zespół deplecji mitochondrialnego DNA, postać wątrobowo-mózgowa","synonyms":["Zespół deplecji mtDNA, postać wątrobowo-mózgowa"]},"cs":{"name":"Syndrom deplece mitochondriální DNA, hepatocerebrální forma","synonyms":["Syndrom deplece mtDNA, hepatocerebrální forma"]},"uk":{"name":"Синдром виснаження мітохондріальної ДНК, гепатоцеребральна форма","synonyms":["Дефіцит дезоксигуанозинкінази","Синдром виснаження мтДНК, гепатоцеребральна форма"]},"zh":{"name":"肝脑型线粒体DNA缺失综合征","synonyms":["线粒体DNA缺失综合征肝脑型"]},"tr":{"name":"Mitokondriyal DNA tükenme sendromu, hepatoserebral form","synonyms":["Deoksiguanozin kinaz eksikliği","mtDNA tükenme sendromu, hepatoserebral form"]}},"xrefs":[{"source":"MONDO","code":"0100512","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580039","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711385","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35698,"name":"Mitochondrial DNA depletion syndrome","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[{"orpha":726,"name":"Alpers-Huttenlocher syndrome","type":"Disease"},{"orpha":1186,"name":"Infantile-onset spinocerebellar ataxia","type":"Disease"},{"orpha":279934,"name":"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency","type":"Disease"},{"orpha":363534,"name":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","type":"Disease"},{"orpha":255229,"name":"Navajo neurohepatopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}