{"Name":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","DiseaseID__c":"GARD:0017564","id":17564,"encodedName":"mitochondrial-dna-depletion-syndrome-hepatocerebrorenal-form","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","Xref_IDs__c":"C5190602; MEDGEN:1674910; MONDO:0018197; ORPHA:363534","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Description_Source__c":"ORPHA:363534","Disease_Description__c":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.","GARD_Name__c":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","GARD_Synonym__c":"mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form; mitochondrial dna depletion syndrome hepatocerebrorenal form; mtdna depletion syndrome, hepatocerebrorenal form","Curated_Disease_Description_Source__c":"ORPHA:363534","Curated_Disease_Description__c":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:363534","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018197","ORPHANET_ID__c":"ORPHA:363534","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de depleción del adn mitocondrial, forma hepato-cerebro-renal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de depleción del adn mitocondrial, forma hepato-cerebro-renal","Spanish_GARD_Synonym__c":"síndrome de depleción del adnmt, forma hepato-cerebro-renal","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, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.","Curated_Disease_Description_Source__c":"ORPHA:363534","GARD_Synonym__c":"mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form; mitochondrial dna depletion syndrome hepatocerebrorenal form; mtdna depletion syndrome, hepatocerebrorenal form","Name":"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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:363534"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:363534"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK487393","Source__c":"Gene Review","Xref__c":"NBK487393"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK3795","Xref__c":"NBK3795"},{"URL__c":"https://www.orpha.net/en/disease/detail/363534","Source__c":"C5190602; MONDO:0018197; ORPHA:363534","Xref__c":"ORPHA:363534"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1674910","Source__c":"C5190602","Xref__c":"MEDGEN:1674910"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190602","Source__c":"C5190602","Xref__c":"C5190602"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782771007","Source__c":"C5190602","Xref__c":"782771007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018197","Source__c":"GARD:0017564","Xref__c":"MONDO:0018197"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TWNK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/twnk","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","Neurology","Nephrology","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Nephrology","Gastroenterology","Pediatrics"],"Account":["Nephrology","Mitochondrial"]},"synonyms":["mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form"," mitochondrial dna depletion syndrome hepatocerebrorenal form"," mtdna depletion syndrome, hepatocerebrorenal form"]}