{"Name":"Xanthinuria type II","DiseaseID__c":"GARD:0005620","id":5620,"encodedName":"xanthinuria-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Xanthinuria type II","Xref_IDs__c":"C1863688; C566358; DOID:0070453; MEDGEN:350953; MONDO:0011346; OMIM:603592; ORPHA:93602","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011346","Disease_Description__c":"Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.","GARD_Name__c":"Xanthinuria type II","GARD_Synonym__c":"xan2; xanthine dehydrogenase and aldehyde oxidase combined deficiency of; xanthine dehydrogenase and aldehyde oxidase, combined deficiency of; xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency; xdh and aox dual deficiency","Curated_Disease_Description_Source__c":"MONDO:0011346","Curated_Disease_Description__c":"Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93602","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011346","ORPHANET_ID__c":"ORPHA:93602","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Xantinuria tipo ii","Spanish_Description_Source__c":"ORPHA:93602","Spanish_Description__c":"La xantinuria tipo II, un tipo de xantinuria clásica (consulte este término), es un trastorno autosómico recesivo poco frecuente del metabolismo de la purina que se caracteriza por el déficit de xantina deshidrogenasa y aldehído oxidasa que da lugar, en algunos pacientes, a insuficiencia renal. Otras manifestaciones menos comunes incluyen artropatía, miopatía y úlcera duodenal, mientras algunos pacientes permanecen asintomáticos.","Spanish_Disease_Name__c":"xantinuria tipo ii","Spanish_GARD_Synonym__c":"deficiencia dual de xantina deshidrogenasa y xantina aldehido oxidasa","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 II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.","Curated_Disease_Description_Source__c":"MONDO:0011346","GARD_Synonym__c":"xan2; xanthine dehydrogenase and aldehyde oxidase combined deficiency of; xanthine dehydrogenase and aldehyde oxidase, combined deficiency of; xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency; xdh and aox dual deficiency","Name":"Xanthinuria type II","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1863688"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005620","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863688","Source__c":"C1863688","Xref__c":"C1863688"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070453","Source__c":"MONDO:0011346","Xref__c":"DOID:0070453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566358","Source__c":"MONDO:0011346","Xref__c":"C566358"},{"URL__c":"https://www.orpha.net/en/disease/detail/93602","Source__c":"C1863688; MONDO:0011346; ORPHA:93602","Xref__c":"ORPHA:93602"},{"URL__c":"https://www.omim.org/entry/603592","Source__c":"C1863688; MONDO:0011346; ORPHA:93602","Xref__c":"OMIM:603592"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350953","Source__c":"C1863688","Xref__c":"MEDGEN:350953"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011346","Source__c":"GARD:0005620","Xref__c":"MONDO:0011346"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MOCOS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mocos","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:603592","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:603592","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:603592","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:603592","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:603592","HPO_Frequency__c":"Occasional (5-29%)","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:603592","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:603592","HPO_Frequency__c":"Very frequent (80-99%)","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:603592","Feature__r":{"HPO_Description__c":"Elevated concentration of hypoxanthine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034333","HPO_Synonym__c":"Hypoxanthine high in blood","HPO_Name__c":"Increased circulating hypoxanthine concentration","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":["xan2"," xanthine dehydrogenase and aldehyde oxidase combined deficiency of"," xanthine dehydrogenase and aldehyde oxidase, combined deficiency of"," xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency"," xdh and aox dual deficiency"]}