{"Name":"Hydroxykynureninuria","DiseaseID__c":"GARD:0010039","id":10039,"encodedName":"hydroxykynureninuria","IsDeleted":false,"Disease_Name_Full__c":"Hydroxykynureninuria","Xref_IDs__c":"33116002; 72945002; C0268474; C536081; DOID:0112257; MEDGEN:78681; MONDO:0009372; OMIM:236800; ORPHA:79155","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009372","Disease_Description__c":"A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.","GARD_Name__c":"Hydroxykynureninuria","GARD_Synonym__c":"encephalopathy due to hydroxykynureninuria; kynureninase deficiency; xanthurenic aciduria","Curated_Disease_Description_Source__c":"MONDO:0009372","Curated_Disease_Description__c":"A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.","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:79155","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009372","ORPHANET_ID__c":"ORPHA:79155","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hidroxiquinureninuria","Spanish_Description_Source__c":"ORPHA:79155","Spanish_Description__c":"Es un trastorno de origen genético y poco frecuente del metabolismo del triptófano caracterizado por la excreción urinaria masiva de ácido xanturénico (AX), 3-hidroxiquinurenina y quinurenina y un aumento de la concentración plasmática de AX. El fenotipo clínico es altamente variable, desde casos asintomáticos o leves que se presentan con ictericia y vómitos, con un normal desarrollo y crecimiento posterior, hasta casos más graves con manifestaciones que incluyen discapacidad intelectual, ataxia cerebelosa, pelagra, encefalopatía progresiva con hipotonía muscular, retraso psicomotor global, gestos estereotipados y/o sordera congénita.","Spanish_Disease_Name__c":"hidroxiquinureninuria","Spanish_GARD_Synonym__c":"aciduria xanturénica; deficiencia de quinureninasa","Category_Linearization__c":"ORPHA:98006","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, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. 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MONDO:0009372; ORPHA:79155","Xref__c":"OMIM:236800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78681","Source__c":"C0268474","Xref__c":"MEDGEN:78681"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268474","Source__c":"C0268474","Xref__c":"C0268474"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=72945002","Source__c":"C0268474; MONDO:0009372","Xref__c":"72945002"},{"URL__c":"https://www.orpha.net/en/disease/detail/79155","Source__c":"C0268474; MONDO:0009372; ORPHA:79155","Xref__c":"ORPHA:79155"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=17820009","Source__c":"C0268474","Xref__c":"17820009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=33116002","Source__c":"C0268474","Xref__c":"33116002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009372","Source__c":"GARD:0010039","Xref__c":"MONDO:0009372"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KYNU","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79155","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008527","HPO_Synonym__c":"Bilateral congenital sensorineural deafness; 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