{"orpha":352470,"name":"DNA2-related mitochondrial DNA deletion syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mitochondrial DNA deletion syndrome with limb-girdle weakness","Mitochondrial DNA deletion syndrome with progressive myopathy","mtDNA deletion syndrome with limb-girdle weakness","mtDNA deletion syndrome with progressive myopathy"],"definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352470/","orphanet_url":"https://www.orpha.net/en/disease/detail/352470","names":{"fr":{"name":"Syndrome de délétion de l'ADN mitochondrial associée à DNA2","synonyms":["Syndrome de délétion de l'ADN mitochondrial avec faiblesse musculaire des ceintures","Syndrome de délétion de l'ADN mitochondrial avec myopathie progressive","Syndrome de délétion de l'ADNmt avec faiblesse musculaire des ceintures","Syndrome de délétion de l'ADNmt avec myopathie progressive"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale d'origine génétique caractérisée par une myopathie tardive avec ophtalmoplégie externe progressive et faiblesse musculaire (principalement au niveau des ceintures) ou par une myopathie précoce entrainant une immobilité foetale, un ptosis congénital, une ophtalmoplégie externe progressive, une hypotonie et, de manière inconstante, des contractures articulaires. Un contenu réduit et des délétions multiples de l'ADN mitochondrial sont observés dans la biopsie musculaire."},"de":{"name":"Mitochondriales DNA-Deletionssyndrom, DNA2-assoziiertes","synonyms":["Mitochondrial DNA-Deletionssyndrom mit Gliedergürtelschwäche","Mitochondriale DNA-Deletionssyndrom mit progressiver Myopathie","mtDNA-Deletionssyndrom mit Gliedergürtelschwäche","mtDNA-Deletionssyndrom mit progressiver Myopathie"]},"es":{"name":"Síndrome de deleción del ADN mitocondrial asociado al gen DNA2","synonyms":["Síndrome de deleción del ADN mitocondrial con debilidad de cinturas y extremidades","Síndrome de deleción del ADN mitocondrial con miopatía progresiva","Síndrome de deleción del ADNmt con debilidad de cinturas y extremidades","Síndrome de deleción del ADNmt con miopatía progresiva"],"definition":"Es un trastorno de la fosforilación oxidativa mitocondrial poco frecuente y de origen genético caracterizado por miopatía de inicio tardío con oftalmoplejía externa progresiva y debilidad muscular (predominantemente de las cinturas) o miopatía de inicio temprano que se presenta con disminución de los movimientos fetales, ptosis congénita, oftalmoplejía externa progresiva, hipotonía y, de forma variable, contracturas articulares. En la biopsia muscular se observa una disminución del contenido de ADN mitocondrial, así como múltiples deleciones."},"it":{"name":"Sindrome da delezione del DNA mitocondriale correlata a DNA2","definition":"È una malattia genetica rara della fosforilazione ossidativa mitocondriale, caratterizzata da miopatia ad esordio tardivo associata a oftalmoplegia esterna progressiva e debolezza muscolare (soprattutto dei cingoli), oppure da miopatia ad esordio precoce che esordisce con una riduzione dei movimenti fetali, ptosi congenita, oftalmoplegia esterna, ipotonia e contratture articolari. La biopsia muscolare evidenzia una riduzione del contenuto e delezioni multiple del DNA mitocondriale."},"nl":{"name":"DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom","synonyms":["Mitochondriaal DNA-deletiesyndroom met limb-girdle-zwakheid","Mitochondriaal DNA-deletiesyndroom met progressieve myopathie","mtDNA-deletiesyndroom met limb-girdle-zwakheid","mtDNA-deletiesyndroom met progressieve myopathie"],"definition":"Een zeldzame, genetische stoornis van de mitochondriale oxidatieve fosforylatie die gekarakteriseerd wordt door ofwel laat aanvangende myopathie met progressieve externe oftalmoplegie en spierzwakte (voornamelijk limb-girdle), ofwel vroeg aanvangende myopathie met afname van foetale bewegingen, congenitale ptose, progressieve externe oftalmoplegie, hypotonie en, variabel, gewrichtscontracturen. Een verminderde hoeveelheid en meervoudige deleties van mitochondriaal DNA worden waargenomen bij onderzoek van spierbiopten."},"pt":{"name":"Síndrome de deleção do ADNmt DNA2-relacionada","synonyms":["Síndrome de deleção do ADN mitocondrial com fraqueza das cinturas dos membros","Síndrome de deleção do ADN mitocondrial com miopatia progressiva","Síndrome de deleção do ADNmt com fraqueza das cinturas dos membros","Síndrome de deleção do ADNmt com miopatia progressiva"]},"pl":{"name":"Zespół delecji mitochondrialnego DNA z postępującą miopatią","synonyms":["Zespół delecji mitochondrialnego DNA ze słabością obręczowo-kończynową","Zespół delecji mtDNA z postępującą miopatią","Zespół delecji mtDNA ze słabością obręczowo-kończynową"]},"cs":{"name":"Syndrom delece mitochondriální DNA s progresivní myopatií","synonyms":["Syndrom delece mitochondriální DNA s pletencovou slabostí","Syndrom delece mtDNA s pletencovou slabostí","Syndrom delece mtDNA s progresivní myopatií"]},"uk":{"name":"Синдром делеції мітохондріальної ДНК, повязаний з ДНК2","synonyms":["Синдром делеції мітохондріальної ДНК зі слабкістю мязів кінцівок","Синдром делеції мітохондріальної ДНК з прогресуючою міопатією","Синдром делеції мтДНК зі слабкістю мязів кінцівок","Синдром делеції мтДНК з прогресуючою міопатією"],"definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy."},"zh":{"name":"DNA2基因相关线粒体DNA缺失综合征","synonyms":["mtDNA缺失综合征伴进行性肌病"],"definition":"一种罕见的遗传性线粒体氧化磷酸化障碍，其特征是伴进行性外眼肌麻痹和肌无力（主要是四肢束带）的迟发性肌病或以胎动减少、先天性上睑下垂、进行性眼肌麻痹、张力减退为特征的早发性肌病和关节挛缩。在肌肉活检中发现线粒体DNA含量降低和多重缺失。"},"tr":{"name":"DNA2-ilişkili mitokondriyal DNA delesyon sendromu","synonyms":["Ekstremite-kavşak tipi kas zayıflığı ile seyreden mtDNA delesyon sendromu","İlerleyici miyopatili mtDNA delesyon sendromu","Ekstremite kavşak tipi kas zayıflığı ile seyreden mitokondriyal DNA delesyon sendromu","İlerleyici miyopati ile seyreden mitokondriyal DNA delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"615156","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.20","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014062","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14062","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192959","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":254807,"name":"Multiple mitochondrial DNA deletion syndrome","classifications":[150,156]}],"children":[],"genes":[{"symbol":"DNA2","name":"DNA replication helicase/nuclease 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23352259[PMID]","hgnc":"2939","ensembl":"ENSG00000138346","omim":"601810","loci":["10q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"23352259[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-03","source":"23352259[PMID]","terms":[{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007970","label":"Congenital ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004673","label":"Decreased facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040013","label":"Decreased mitochondrial number","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Frequent (79-30%)","criteria":null}]}}