{"Name":"Hyperdibasic aminoaciduria type 1","DiseaseID__c":"GARD:0001854","id":1854,"encodedName":"hyperdibasic-aminoaciduria-type-1","IsDeleted":false,"Disease_Name_Full__c":"Hyperdibasic aminoaciduria type 1","Xref_IDs__c":"C2673736; C567132; MEDGEN:435997; MONDO:0009108; OMIM:222690","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009108","Disease_Description__c":"Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.","GARD_Name__c":"Hyperdibasic aminoaciduria type 1","GARD_Synonym__c":"dibasic amino aciduria i; dibasic amino aciduria type 1","Curated_Disease_Description_Source__c":"MONDO:0009108","Curated_Disease_Description__c":"Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009108","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":"Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.","Curated_Disease_Description_Source__c":"MONDO:0009108","GARD_Synonym__c":"dibasic amino aciduria i; dibasic amino aciduria type 1","Name":"Hyperdibasic aminoaciduria type 1","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2673736"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=435997","Source__c":"C2673736","Xref__c":"MEDGEN:435997"},{"URL__c":"https://www.omim.org/entry/222690","Source__c":"C2673736; MONDO:0009108","Xref__c":"OMIM:222690"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673736","Source__c":"C2673736","Xref__c":"C2673736"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567132","Source__c":"MONDO:0009108","Xref__c":"C567132"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009108","Source__c":"GARD:0001854","Xref__c":"MONDO:0009108"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:222690","Feature__r":{"HPO_Description__c":"Level of ornithine in the urine above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003532","HPO_Synonym__c":"Ornithine high in urine","HPO_Name__c":"Ornithinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:222690","Feature__r":{"HPO_Description__c":"An increased concentration of lysine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003297","HPO_Synonym__c":"High urine lysine levels; Lysinuria","HPO_Name__c":"Hyperlysinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:222690","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:222690","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:222690","Feature__r":{"HPO_Description__c":"A increased concentration of arginine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003268","HPO_Synonym__c":"High urine arginine levels","HPO_Name__c":"Argininuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:222690","Feature__r":{"HPO_Description__c":"An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003168","HPO_Name__c":"Dibasicaminoaciduria","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["dibasic amino aciduria i"," dibasic amino aciduria type 1"]}