{"Name":"Hereditary xanthinuria type 1","DiseaseID__c":"GARD:0005621","id":5621,"encodedName":"hereditary-xanthinuria-type-1","IsDeleted":false,"Disease_Name_Full__c":"Hereditary xanthinuria type 1","Xref_IDs__c":"72682008; 836343001; C0268118; C562584; DOID:0070452; MEDGEN:82771; MONDO:0010209; OMIM:278300; ORPHA:93601","USA_Estimate__c":null,"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":null,"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":0,"Description_Source__c":"MONDO:0010209","Disease_Description__c":"Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.","GARD_Name__c":"Hereditary xanthinuria type 1","GARD_Synonym__c":"deficiency of hypoxanthine oxidase; deficiency of xanthine oxidase; isolated xanthine oxidase deficiency; xan1; xanthine oxidase deficiency; xanthine oxidoreductase deficiency; xanthinuria type 1; xanthinuria type i; xanthinuria, type 1; xanthinuria, type i; xdh deficiency; xo deficiency; xor deficiency","Curated_Disease_Description_Source__c":"MONDO:0010209","Curated_Disease_Description__c":"Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93601","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010209","ORPHANET_ID__c":"ORPHA:93601","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Xantinuria tipo i","Spanish_Description_Source__c":"ORPHA:93601","Spanish_Description__c":"La xantinuria tipo I, un tipo de xantinuria clásica (consulte este término), es un trastorno autosómico recesivo poco frecuente del metabolismo de la purina que se caracteriza por un déficit aislado de xantina deshidrogenasa, lo que causa hiperxantinemia con ácido úrico ausente o con niveles bajos, y xantinuria, lo que da lugar a urolitiasis, hematuria, cólico renal e infecciones del tracto urinario, mientras que algunos pacientes son asintomáticos y otros sufren de insuficiencia renal. Las manifestaciones menos comunes incluyen artropatía, miopatía y úlcera duodenal.","Spanish_Disease_Name__c":"xantinuria tipo i","Spanish_GARD_Synonym__c":"deficiencia de xantina deshidrogenasa; deficiencia de xantina oxidasa; deficiencia de xantina oxidorreductasa; deficiencia de xdh; deficiencia de xo; deficiencia de xor","Category_Linearization__c":"ORPHA:93626","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":"Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.","Curated_Disease_Description_Source__c":"MONDO:0010209","GARD_Synonym__c":"deficiency of hypoxanthine oxidase; deficiency of xanthine oxidase; isolated xanthine oxidase deficiency; xan1; xanthine oxidase deficiency; xanthine oxidoreductase deficiency; xanthinuria type 1; xanthinuria type i; xanthinuria, type 1; xanthinuria, type i; xdh deficiency; xo deficiency; xor deficiency","Name":"Hereditary xanthinuria type 1","estimateUsa":""}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005621","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82771","Source__c":"C0268118","Xref__c":"MEDGEN:82771"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070452","Source__c":"MONDO:0010209","Xref__c":"DOID:0070452"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268118","Source__c":"C0268118","Xref__c":"C0268118"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=72682008","Source__c":"MONDO:0010209","Xref__c":"72682008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562584","Source__c":"MONDO:0010209","Xref__c":"C562584"},{"URL__c":"https://www.orpha.net/en/disease/detail/93601","Source__c":"C0268118; MONDO:0010209; ORPHA:93601","Xref__c":"ORPHA:93601"},{"URL__c":"https://www.omim.org/entry/278300","Source__c":"C0268118; MONDO:0010209; ORPHA:93601","Xref__c":"OMIM:278300"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124147007","Source__c":"C0268118","Xref__c":"124147007"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=836343001","Source__c":"C0268118","Xref__c":"836343001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010209","Source__c":"GARD:0005621","Xref__c":"MONDO:0010209"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"XDH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/xdh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:278300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased level of xanthine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010933","HPO_Synonym__c":"Increased circulating xanthine concentration","HPO_Name__c":"Hyperxanthinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:278300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally low level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003537","HPO_Synonym__c":"Low blood uric acid levels","HPO_Name__c":"Hypouricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:278300","Feature__r":{"HPO_Description__c":"The presence of xanthine-containing calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000804","HPO_Synonym__c":"Urinary xanthine stones; Xanthine stones","HPO_Name__c":"Xanthine nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:278300","Feature__r":{"HPO_Description__c":"An abnormal reduction in xanthine dehydrogenase level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003534","HPO_Name__c":"Reduced xanthine dehydrogenase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:278300","Feature__r":{"HPO_Description__c":"An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012330","HPO_Name__c":"Pyelonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:278300","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:278300","Feature__r":{"HPO_Description__c":"An increased concentration of xanthine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010934","HPO_Synonym__c":"Increased urinary xanthine","HPO_Name__c":"Xanthinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:278300","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:278300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the ability of the kidneys to remove uric acid from the serum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004732","HPO_Synonym__c":"Uric acid fractional excretion decreased","HPO_Name__c":"Impaired renal uric acid clearance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:278300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity of the enzyme xanthine oxidase (EC 1.17.3.2) below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000218","HPO_Synonym__c":"Xanthine oxidase low","HPO_Name__c":"Reduced circulating xanthine oxidase activity","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology"],"Account":["Nephrology"]},"synonyms":["deficiency of hypoxanthine oxidase"," deficiency of xanthine oxidase"," isolated xanthine oxidase deficiency"," xan1"," xanthine oxidase deficiency"," xanthine oxidoreductase deficiency"," xanthinuria type 1"," xanthinuria type i"," xanthinuria, type 1"," xanthinuria, type i"," xdh deficiency"," xo deficiency"," xor deficiency"]}