{"Name":"Citrin deficiency","DiseaseID__c":"GARD:0020661","id":20661,"encodedName":"citrin-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Citrin deficiency","Xref_IDs__c":"429735007; C1997910; MEDGEN:372684; MONDO:0016602; NBK1181; ORPHA:247582","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016602","Disease_Description__c":"A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).","GARD_Name__c":"Citrin deficiency","GARD_Synonym__c":"slc25a13 related citrin deficiency; solute carrier family 25 member 13 related citrin deficiency","Curated_Disease_Description_Source__c":"MONDO:0016602","Curated_Disease_Description__c":"A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).","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:247582","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016602","ORPHANET_ID__c":"ORPHA:247582","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de citrina","Spanish_Description_Source__c":"ORPHA:247582","Spanish_Description__c":"Es un defecto del ciclo de la urea, autosómico recesivo y poco frecuente, que se caracteriza clínicamente por episodios recurrentes de hiperamonemia y síntomas neuropsiquiátricos asociados, en la forma de aparición en el adulto (citrulinemia tipo 2), y por colestasis transitoria y disfunción hepática variable en la forma neonatal (colestatis intrahepática neonatal por déficit de citrina).","Spanish_Disease_Name__c":"deficiencia de citrina","Spanish_GARD_Synonym__c":null,"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":"A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).","Curated_Disease_Description_Source__c":"MONDO:0016602","GARD_Synonym__c":"slc25a13 related citrin deficiency; solute carrier family 25 member 13 related citrin deficiency","Name":"Citrin deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Urea Cycle Disorders Foundation","Website__c":"https://nucdf.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:247582"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1997910","Source__c":"C1997910","Xref__c":"C1997910"},{"URL__c":"https://www.orpha.net/en/disease/detail/247582","Source__c":"C1997910; MONDO:0016602; ORPHA:247582","Xref__c":"ORPHA:247582"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372684","Source__c":"C1997910","Xref__c":"MEDGEN:372684"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=429735007","Source__c":"C1997910; MONDO:0016602","Xref__c":"429735007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016602","Source__c":"GARD:0020661","Xref__c":"MONDO:0016602"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1181","Source__c":"Gene Review","Xref__c":"NBK1181"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["slc25a13 related citrin deficiency"," solute carrier family 25 member 13 related citrin deficiency"]}