{"Name":"Hereditary xanthinuria","DiseaseID__c":"GARD:0016628","id":16628,"encodedName":"hereditary-xanthinuria","IsDeleted":false,"Disease_Name_Full__c":"Hereditary xanthinuria","Xref_IDs__c":"54627004; C5779508; DOID:0060236; MEDGEN:1830243; MONDO:0018106; OMIMPS:278300; ORPHA:3467","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018106","Disease_Description__c":"A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.","GARD_Name__c":"Hereditary xanthinuria","GARD_Synonym__c":"classic xanthinuria; classical xanthinuria; xanthic urolithiasis; xanthine dehydrogenase deficiency; xanthine stone disease","Curated_Disease_Description_Source__c":"MONDO:0018106","Curated_Disease_Description__c":"Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms tiny crystals that occasionally build up to create kidney stones. These stones can impair kidney function and ultimately cause kidney failure. Related signs and symptoms can include abdominal pain, recurrent urinary tract infections, and blood in the urine (hematuria). Less commonly, xanthine crystals build up in the muscles, causing pain and cramping. In some people with hereditary xanthinuria, the condition does not cause any health problems. Researchers have described two major forms of hereditary xanthinuria, types I and II. The types are distinguished by the enzymes involved; they have the same signs and symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3467","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018106","ORPHANET_ID__c":"ORPHA:3467","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Xantinuria hereditaria","Spanish_Description_Source__c":"ORPHA:3467","Spanish_Description__c":"Es un trastorno del metabolismo de la purina causado por un déficit heriditario del enzima xantina deshidrogenasa/oxidasa, y se caracteriza por una concentración muy baja (o indetectable) de ácido úrico en sangre y orina y una concentración muy alta de xantina en orina, lo que provoca una urolitiasis.","Spanish_Disease_Name__c":"xantinuria hereditaria","Spanish_GARD_Synonym__c":"enfermedad de cálculos de xantina; urolitiasis xántica; xantinuria clásica","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":"Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms tiny crystals that occasionally build up to create kidney stones. These stones can impair kidney function and ultimately cause kidney failure. Related signs and symptoms can include abdominal pain, recurrent urinary tract infections, and blood in the urine (hematuria). Less commonly, xanthine crystals build up in the muscles, causing pain and cramping. In some people with hereditary xanthinuria, the condition does not cause any health problems. Researchers have described two major forms of hereditary xanthinuria, types I and II. The types are distinguished by the enzymes involved; they have the same signs and symptoms.","Curated_Disease_Description_Source__c":"MONDO:0018106","GARD_Synonym__c":"classic xanthinuria; classical xanthinuria; xanthic urolithiasis; xanthine dehydrogenase deficiency; xanthine stone disease","Name":"Hereditary xanthinuria","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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:3467"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830243","Source__c":"C5779508","Xref__c":"MEDGEN:1830243"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5779508","Source__c":"C5779508","Xref__c":"C5779508"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54627004","Source__c":"C5779508; MONDO:0018106","Xref__c":"54627004"},{"URL__c":"https://www.orpha.net/en/disease/detail/3467","Source__c":"C5779508; MONDO:0018106; ORPHA:3467","Xref__c":"ORPHA:3467"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS278300","Source__c":"MONDO:0018106","Xref__c":"OMIMPS:278300"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060236","Source__c":"MONDO:0018106","Xref__c":"DOID:0060236"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018106","Source__c":"GARD:0016628","Xref__c":"MONDO:0018106"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-xanthinuria","Source__c":"GARD:0016628","Xref__c":"https://medlineplus.gov/genetics/condition/hereditary-xanthinuria"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001997","HPO_Synonym__c":"Gouty arthritis","HPO_Name__c":"Gout","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in aldehyde oxidase level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002932","HPO_Name__c":"Aldehyde oxidase deficiency","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030157","HPO_Synonym__c":"Flank pain","HPO_Name__c":"Flank pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","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":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011814","HPO_Name__c":"Increased urinary hypoxanthine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally reduced sulfite oxidase level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003643","HPO_Name__c":"Sulfite oxidase deficiency","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003040","HPO_Synonym__c":"Disease of the joints","HPO_Name__c":"Arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of uric acid-containing calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000791","HPO_Synonym__c":"Uric acid stones; Uric acid urolithiasis","HPO_Name__c":"Uric acid nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:3467","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased concentration of urate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011935","HPO_Name__c":"Decreased urinary urate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of crystals in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020074","HPO_Name__c":"Crystalluria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3467","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["classic xanthinuria"," classical xanthinuria"," xanthic urolithiasis"," xanthine dehydrogenase deficiency"," xanthine stone disease"]}