{"Name":"Dicarboxylic aminoaciduria","DiseaseID__c":"GARD:0001855","id":1855,"encodedName":"dicarboxylic-aminoaciduria","IsDeleted":false,"Disease_Name_Full__c":"Dicarboxylic aminoaciduria","Xref_IDs__c":"716747007; C1857253; C536171; DOID:0060650; MEDGEN:387782; MONDO:0009110; OMIM:222730; ORPHA:2195","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009110","Disease_Description__c":"A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.","GARD_Name__c":"Dicarboxylic aminoaciduria","GARD_Synonym__c":"dcbxa; dicarboxylic aminoaciduria syndrome; dicarboxylicaminoaciduria; glutamate aspartate transport defect; glutamate-aspartate transport defect","Curated_Disease_Description_Source__c":"GARD:0001855","Curated_Disease_Description__c":"Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by genetic changes in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2195","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009110","ORPHANET_ID__c":"ORPHA:2195","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aminoaciduria dicarboxílica","Spanish_Description_Source__c":"ORPHA:2195","Spanish_Description__c":"Es un error congénito del metabolismo autosómico recesivo y poco frecuente caracterizado por un aumento de la excreción urinaria de aminoácidos dicarboxílicos, glutamato y aspartato, que puede asociarse con cálculos renales y manifestaciones neuropsiquiátricas.","Spanish_Disease_Name__c":"aminoaciduria dicarboxílica","Spanish_GARD_Synonym__c":"defecto de transporte de glutamato-aspartato","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":"Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by genetic changes in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.","Curated_Disease_Description_Source__c":"GARD:0001855","GARD_Synonym__c":"dcbxa; dicarboxylic aminoaciduria syndrome; dicarboxylicaminoaciduria; glutamate aspartate transport defect; glutamate-aspartate transport defect","Name":"Dicarboxylic aminoaciduria","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Infancy","Provided_By__c":"ORPHA:2195"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2195"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857253"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001855","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716747007","Source__c":"C1857253; MONDO:0009110","Xref__c":"716747007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536171","Source__c":"MONDO:0009110","Xref__c":"C536171"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857253","Source__c":"C1857253","Xref__c":"C1857253"},{"URL__c":"https://www.orpha.net/en/disease/detail/2195","Source__c":"C1857253; MONDO:0009110; ORPHA:2195","Xref__c":"ORPHA:2195"},{"URL__c":"https://www.omim.org/entry/222730","Source__c":"C1857253; MONDO:0009110; ORPHA:2195","Xref__c":"OMIM:222730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=387782","Source__c":"C1857253","Xref__c":"MEDGEN:387782"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060650","Source__c":"MONDO:0009110","Xref__c":"DOID:0060650"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009110","Source__c":"GARD:0001855","Xref__c":"MONDO:0009110"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC1A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:222730","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:222730","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:222730","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:222730","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A increased concentration of aspartic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032401","HPO_Name__c":"Aspartic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:222730","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003162","HPO_Synonym__c":"Low blood sugar when fasting","HPO_Name__c":"Fasting hypoglycemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["dcbxa"," dicarboxylic aminoaciduria syndrome"," dicarboxylicaminoaciduria"," glutamate aspartate transport defect"," glutamate-aspartate transport defect"]}