{"Name":"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial","DiseaseID__c":"GARD:0004279","id":4279,"encodedName":"phosphoenolpyruvate-carboxykinase-deficiency-mitochondrial","IsDeleted":false,"Disease_Name_Full__c":"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial","Xref_IDs__c":"C1849821; C564890; MEDGEN:376665; MONDO:0009864; OMIM:261650","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:261650","Disease_Description__c":null,"GARD_Name__c":"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial","GARD_Synonym__c":"pck2 deficiency; pepck deficiency, mitochondrial; pepck2 deficiency","Curated_Disease_Description_Source__c":"OMIM:261650","Curated_Disease_Description__c":"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial can cause hypoglycemia and liver impairment in association with deficiency of PEPCK. In some patients, massive fatty deposition in liver and kidneys has been observed. This disease is caused by mutations in the PCK2 gene. It follows an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:261650","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009864","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial can cause hypoglycemia and liver impairment in association with deficiency of PEPCK. In some patients, massive fatty deposition in liver and kidneys has been observed. This disease is caused by mutations in the PCK2 gene. It follows an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"OMIM:261650","GARD_Synonym__c":"pck2 deficiency; pepck deficiency, mitochondrial; pepck2 deficiency","Name":"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849821"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004279","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376665","Source__c":"C1849821","Xref__c":"MEDGEN:376665"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849821","Source__c":"C1849821","Xref__c":"C1849821"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564890","Source__c":"MONDO:0009864","Xref__c":"C564890"},{"URL__c":"https://www.omim.org/entry/261650","Source__c":"C1849821; MONDO:0009864","Xref__c":"OMIM:261650"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009864","Source__c":"GARD:0004279","Xref__c":"MONDO:0009864"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PCK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:261650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261650","Feature__r":{"HPO_Description__c":"An impairment of gluconeogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005959","HPO_Synonym__c":"Gluconeogenesis impaired","HPO_Name__c":"Impaired gluconeogenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261650","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:261650","Feature__r":{"HPO_Description__c":"Abnormal fat accumulation in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000799","HPO_Synonym__c":"Fatty kidney","HPO_Name__c":"Renal steatosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261650","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["pck2 deficiency"," pepck deficiency, mitochondrial"," pepck2 deficiency"]}