{"Name":"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)","DiseaseID__c":"GARD:0013644","id":13644,"encodedName":"mitochondrial-dna-depletion-syndrome-3-hepatocerebral-type","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)","Xref_IDs__c":"CN074093; DOID:0080121; MEDGEN:442277; MONDO:0009636; ORPHA:279934","USA_Estimate__c":"1,000","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":"1 to 8,000","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":3,"Description_Source__c":"MONDO:0009636","Disease_Description__c":"Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.","GARD_Name__c":"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)","GARD_Synonym__c":"dguok mitochondrial dna depletion syndrome; dguok-related mitochondrial dna depletion syndrome, hepatocerebral form; mitochondrial dna depletion syndrome 3; mitochondrial dna depletion syndrome caused by mutation in dguok; mitochondrial dna depletion syndrome type 3","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency is a rare mitochondrial disorder that affects many parts of the body. Mitochondrial disorders occur when mitochondria, the structures that produce energy for our cells, malfunction. This disease is caused by a lack of a protein called DGUOK, which leads to a significant reduction in the amount of DNA in the mitochondria. This can cause problems with the liver, delays in development, weak muscles, and rapid, involuntary eye movements. It can also cause a buildup of lactic acid and low blood sugar.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:279934","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009636","ORPHANET_ID__c":"ORPHA:279934","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de depleción del adn mitocondrial, forma hepatocerebral por deficiencia de dguok","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de depleción del adn mitocondrial, forma hepatocerebral por deficiencia de dguok","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98004","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, hepatocerebral form due to DGUOK deficiency is a rare mitochondrial disorder that affects many parts of the body. Mitochondrial disorders occur when mitochondria, the structures that produce energy for our cells, malfunction. This disease is caused by a lack of a protein called DGUOK, which leads to a significant reduction in the amount of DNA in the mitochondria. This can cause problems with the liver, delays in development, weak muscles, and rapid, involuntary eye movements. It can also cause a buildup of lactic acid and low blood sugar.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"dguok mitochondrial dna depletion syndrome; dguok-related mitochondrial dna depletion syndrome, hepatocerebral form; mitochondrial dna depletion syndrome 3; mitochondrial dna depletion syndrome caused by mutation in dguok; mitochondrial dna depletion syndrome type 3","Name":"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"Infancy","Provided_By__c":"ORPHA:279934"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:279934"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:279934"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013644","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK7040","Source__c":"Gene Review","Xref__c":"NBK7040"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK487393","Source__c":"Gene Review","Xref__c":"NBK487393"},{"URL__c":"https://www.orpha.net/en/disease/detail/279934","Source__c":"CN074093; MONDO:0009636","Xref__c":"ORPHA:279934"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080121","Source__c":"MONDO:0009636","Xref__c":"DOID:0080121"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009636","Source__c":"GARD:0013644","Xref__c":"MONDO:0009636"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN074093","Source__c":"CN074093","Xref__c":"CN074093"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=442277","Source__c":"CN074093","Xref__c":"MEDGEN:442277"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DGUOK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dguok","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Gastroenterology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["dguok mitochondrial dna depletion syndrome"," dguok-related mitochondrial dna depletion syndrome, hepatocerebral form"," mitochondrial dna depletion syndrome 3"," mitochondrial dna depletion syndrome caused by mutation in dguok"," mitochondrial dna depletion syndrome type 3"]}