{"orpha":329314,"name":"Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency"],"definition":"An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329314/","orphanet_url":"https://www.orpha.net/en/disease/detail/329314","names":{"fr":{"name":"Syndrome de délétions multiples de l'ADN mitochondrial de l'adulte par déficit en DGUOK","synonyms":["Syndrome de délétions multiples de l'ADNmt de l'adulte par déficit en DGUOK"],"definition":"Le syndrome de délétions multiples de l'ADN mitochondrial de l'adulte par déficit en DGUOK est un syndrome de délétions multiples de l'ADN mitochondrial extrêmement rare qui se manifeste par une diminution importante de l'activité de la désoxyguanosine kinase (DGUOK) dans le muscle squelettique, et se caractérise par un phénotype très variable. Les manifestations cliniques incluent une ophtalmoplégie externe progressive, une myopathie mitochondriale, une rhabdomyolyse récurrente, une atteinte des motoneurones inférieurs, une légère atteinte cognitive, une neuropathie axonale sensorielle, une atrophie optique, une ataxie, un hypogonadisme et/ou un parkinsonisme."},"de":{"name":"Multiples mitochondriales DNA-Deletionssyndrom durch DGUOK-Mangel des Erwachsenen","synonyms":["Multiples mtDNA-Deletionssyndrom durch DGUOK-Mangel mit Beginn im Erwachsenenalter"],"definition":"Ein extrem seltenes multiples mitochondriales DNA-Deletionssyndrom mit deutlich verminderter Desoxyguanosin-Kinase (DGUOK)-Aktivität im Skelettmuskel, das durch einen sehr variablen Phänotyp gekennzeichnet ist. Zu den klinischen Manifestationen gehören progressive externe Ophthalmoplegie, mitochondriale Myopathie, rezidivierende Rhabdomyolyse, Erkrankung der unteren Motoneuronen, leichte kognitive Beeinträchtigung, sensorische axonale Neuropathie, Optikusatrophie, Ataxie, Hypogonadismus und/oder Parkinsonismus."},"es":{"name":"Síndrome de deleción múltiple del ADN mitocondrial por deficiencia de DGUOK de inicio en el adulto","synonyms":["Síndrome de deleción múltiple del ADNmt por deficiencia de DGUOK en el adulto"],"definition":"Es un síndrome de deleción múltiple del ADN mitocondrial extremadamente infrecuente con una notable disminución de la actividad DGUOK en músculo esquelético caracterizado por un fenotipo altamente variable. Las manifestaciones clínicas incluyen oftalmoplejía externa progresiva, miopatía mitocondrial, rabdomiolisis recurrente, enfermedad de la motoneurona inferior, leve trastorno cognitivo, neuropatía axonal sensorial, atrofia óptica, ataxia, hipogonadismo y/o parkinsonismo."},"it":{"name":"Sindrome da delezioni multiple del DNA mitocondriale da deficit di DGUOK a esordio nell'età adulta","synonyms":["Sindrome da delezioni multiple di mtDNA da deficit di DGUOK"],"definition":"La sindrome da delezioni multiple del DNA mitocondriale da deficit di DGUOK ad esordio nell'età adulta è una malattia da delezioni multiple del DNA mitocondriale, associata ad una marcata riduzione dell'attività della deossiguanosina chinasi (DGUOK) nei muscoli scheletrici. Il quadro clinico è molto variabile e comprende l'oftalmoplegia esterna progressiva, la miopatia mitocondriale, la rabdomiolisi ricorrente, la malattia dei motoneuroni inferiori, il lieve deficit cognitivo, la neuropatia sensoriale assonale, l'atrofia ottica, l'atassia, l'ipogonadismo e/o il parkinsonismo."},"nl":{"name":"Meervoudig mitochondriaal DNA-deletiesyndroom door DGUOK-deficiëntie met aanvang op volwassen leeftijd","synonyms":["Meervoudig mtDNA-deletie syndroom door DGUOK-deficiëntie met aanvang op volwassen leeftijd"],"definition":"Een uiterst zeldzaam meervoudig mitochondriaal DNA-deletiesyndroom met een beduidend verminderde activiteit van deoxyguanosinekinase (DGUOK) in skeletspier en gekarakteriseerd door een zeer variabel fenotype. Klinische manifestaties zijn onder meer progressieve externe oftalmoplegie, mitochondriale myopathie, terugkerende rabdomyolyse, lagere motorneuronziekte, milde cognitieve beperking, sensorische axonale neuropathie, opticusatrofie, ataxie, hypogonadisme en/of parkinsonisme."},"pt":{"name":"Síndrome de deleções múltiplas do ADN mitocondrial por deficiência de DGUOK com início no adulto","synonyms":["Síndrome de deleções múltiplas do ADNmt por deficiência de DGUOK com início no adulto"]},"pl":{"name":"Zespół mnogich delecji mitochondrialnego DNA z powodu deficytu DGUOK o początku w wieku dorosłym","synonyms":["Zespół mnogich delecji mtDNA z powodu deficytu DGUOK o początku w wieku dorosłym"]},"cs":{"name":"Syndrom mnohočetné mitochondriální DNA delece se začátkem v dospělosti způsobený DGUOK deficitem","synonyms":["Syndrom mnohočetné mt DNA delece se začátkem v dospělosti způsobený DGUOK deficitem"]},"uk":{"name":"Синдром множинної делеції мітохондріальної ДНК у дорослих, зумовлений дефіцитом DGUOK","synonyms":["Синдром множинної делеції мтДНК у дорослих, спричинений дефіцитом DGUOK"],"definition":"An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."},"zh":{"name":"DGUOK缺陷致成人发病型多发性线粒体DNA缺失综合征","synonyms":["DGUOK缺陷致成人发病型多发性mtDNA缺失综合征"],"definition":"一种极为罕见的多发性线粒体DNA缺失综合征，其骨骼肌脱氧鸟苷激酶（DGUOK）活性显著降低，表型高度可变。临床表现包括进行性眼外肌麻痹、线粒体肌病、复发性横纹肌溶解症、下运动神经元病、轻度认知障碍、感觉轴索神经病、视神经萎缩、共济失调、性腺功能减退和/或帕金森综合征。"},"tr":{"name":"DGUOK eksikliğine bağlı yetişkin başlangıçlı çoklu mitokondriyal DNA delesyon sendromu","synonyms":["DGUOK eksikliğine bağlı erişkin başlangıçlı çoklu mtDNA delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"617070","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.21","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014899","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":254807,"name":"Multiple mitochondrial DNA deletion syndrome","classifications":[150,156]},{"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":"23043144[PMID]","hgnc":"2858","ensembl":"ENSG00000114956","omim":"601465","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-22","source":"23043144[PMID]_27858775[PMID]_30283818[PMID]","terms":[{"hpo":"HP:0008615","label":"Adult onset sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003797","label":"Limb-girdle muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003558","label":"Viral infection-induced rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null}]}}