{"Name":"Mitochondrial DNA depletion syndrome","DiseaseID__c":"GARD:0013643","id":13643,"encodedName":"mitochondrial-dna-depletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial DNA depletion syndrome","Xref_IDs__c":"C0342782; C185235; DOID:0070329; MEDGEN:452449; MONDO:0018158; OMIMPS:603041; ORPHA:35698","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018158","Disease_Description__c":"A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.","GARD_Name__c":"Mitochondrial DNA depletion syndrome","GARD_Synonym__c":"depletion of mitochondrial deoxyribonucleic acid; depletion of mitochondrial dna; mitochondrial dna depletion; mtdna depletion syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Mitochondrial DNA depletion syndrome is a group of mitochondrial disorders that affect different parts of the body. Mitochondrial disorders occur when mitochondria, the structures that produce energy for our cells, malfunction. This group of diseases is caused by a reduction of the mitochondrial DNA copy number in affected tissues in the absence of any mutations or rearrangements in the mitochondrial DNA itself. They can affect one or more organs, such as muscles, stomach and intestines, brain, and liver. Mitochondrial depletion is also responsible for causing several rare genetic diseases, including fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:35698","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018158","ORPHANET_ID__c":"ORPHA:35698","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de depleción del adn mitocondrial","Spanish_Description_Source__c":"ORPHA:35698","Spanish_Description__c":"Es un grupo clínicamente heterogéneo de trastornos mitocondriales caracterizado por una reducción en el número de copias del ADNmt en los tejidos afectados, sin existencia de mutaciones o reordenamientos en el ADNmt. El síndrome es fenotípicamente heterogéneo y puede afectar a un órgano específico o a una combinación de órganos, siendo las principales presentaciones descritas: hepatocerebrales (disfunción hepática, retraso psicomotor), miopáticas (hipotonía, debilidad muscular, debilidad bulbar), encefalomiopáticas (hipotonía, debilidad muscular, retraso psicomotor) o neurogastrointestinales (dismotilidad gastrointestinal, neuropatía periférica). Otros fenotipos adicionales incluyen acidosis láctica infantil fatal con aciduria metilmalónica, ataxia espástica (síndrome de ataxia-neuropatía espástica de inicio temprano) y síndrome de Alpers.","Spanish_Disease_Name__c":"síndrome de depleción del adn mitocondrial","Spanish_GARD_Synonym__c":"síndrome de depleción del adnmt","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Mitochondrial DNA depletion syndrome is a group of mitochondrial disorders that affect different parts of the body. Mitochondrial disorders occur when mitochondria, the structures that produce energy for our cells, malfunction. This group of diseases is caused by a reduction of the mitochondrial DNA copy number in affected tissues in the absence of any mutations or rearrangements in the mitochondrial DNA itself. They can affect one or more organs, such as muscles, stomach and intestines, brain, and liver. Mitochondrial depletion is also responsible for causing several rare genetic diseases, including fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"depletion of mitochondrial deoxyribonucleic acid; depletion of mitochondrial dna; mitochondrial dna depletion; mtdna depletion syndrome","Name":"Mitochondrial DNA depletion syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:35698"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS603041","Source__c":"MONDO:0018158","Xref__c":"OMIMPS:603041"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342782","Source__c":"C0342782","Xref__c":"C0342782"},{"URL__c":"https://www.orpha.net/en/disease/detail/35698","Source__c":"C0342782; MONDO:0018158; ORPHA:35698","Xref__c":"ORPHA:35698"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070329","Source__c":"MONDO:0018158","Xref__c":"DOID:0070329"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=452449","Source__c":"C0342782","Xref__c":"MEDGEN:452449"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018158","Source__c":"GARD:0013643","Xref__c":"MONDO:0018158"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237995002","Source__c":"C0342782","Xref__c":"237995002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C185235","Source__c":"C0342782","Xref__c":"C185235"}],"Inheritance__c":["Mitochondrial inheritance"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Gastroenterology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["depletion of mitochondrial deoxyribonucleic acid"," depletion of mitochondrial dna"," mitochondrial dna depletion"," mtdna depletion syndrome"]}