{"Name":"Familial renal hypouricemia","DiseaseID__c":"GARD:0009496","id":9496,"encodedName":"familial-renal-hypouricemia","IsDeleted":false,"Disease_Name_Full__c":"Familial renal hypouricemia","Xref_IDs__c":"236478009; C4551590; C537757; MEDGEN:1643078; MONDO:0009071; ORPHA:94088","USA_Estimate__c":null,"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":null,"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:0009071","Disease_Description__c":"A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).","GARD_Name__c":"Familial renal hypouricemia","GARD_Synonym__c":"hereditary renal hypouricemia","Curated_Disease_Description_Source__c":"MONDO:0009071","Curated_Disease_Description__c":"Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood. Urate is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much urate in the body is toxic, so excess urate is removed from the body in urine. People with renal hypouricemia have little to no urate in their blood; they release an excessive amount of it in the urine. In many affected individuals, renal hypouricemia causes no signs or symptoms. However, some people with this condition develop kidney problems. After strenuous exercise, they can develop exercise-induced acute kidney injury, which causes pain in their sides and lower back as well as nausea and vomiting that can last several hours. Because an excessive amount of urate passes through the kidneys to be excreted in urine in people with renal hypouricemia, they have an increased risk of developing kidney stones (nephrolithiasis) formed from urate crystals. These urate stones can damage the kidneys and lead to episodes of blood in the urine (hematuria). Rarely, people with renal hypouricemia develop life-threatening kidney failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:94088","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009071","ORPHANET_ID__c":"ORPHA:94088","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipouricemia renal hereditaria","Spanish_Description_Source__c":"ORPHA:94088","Spanish_Description__c":"Es un trastorno renal tubularde base genética, caracterizado por la pérdida de urato en la orina que, por lo general, resulta en la aparición de hipouricemia asintomática y en una mayor predisposición a urolitiasis y a insuficiencia renal aguda inducida por el ejercicio (IRAIE).","Spanish_Disease_Name__c":"hipouricemia renal hereditaria","Spanish_GARD_Synonym__c":"hipouricemia renal familiar","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":"Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood. Urate is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much urate in the body is toxic, so excess urate is removed from the body in urine. People with renal hypouricemia have little to no urate in their blood; they release an excessive amount of it in the urine. In many affected individuals, renal hypouricemia causes no signs or symptoms. However, some people with this condition develop kidney problems. After strenuous exercise, they can develop exercise-induced acute kidney injury, which causes pain in their sides and lower back as well as nausea and vomiting that can last several hours. Because an excessive amount of urate passes through the kidneys to be excreted in urine in people with renal hypouricemia, they have an increased risk of developing kidney stones (nephrolithiasis) formed from urate crystals. These urate stones can damage the kidneys and lead to episodes of blood in the urine (hematuria). Rarely, people with renal hypouricemia develop life-threatening kidney failure.","Curated_Disease_Description_Source__c":"MONDO:0009071","GARD_Synonym__c":"hereditary renal hypouricemia","Name":"Familial renal hypouricemia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:94088"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0473219"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009496","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/94088","Source__c":"C4551590; MONDO:0009071; ORPHA:94088","Xref__c":"ORPHA:94088"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236478009","Source__c":"C4551590; MONDO:0009071","Xref__c":"236478009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551590","Source__c":"C4551590","Xref__c":"C4551590"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1643078","Source__c":"C4551590","Xref__c":"MEDGEN:1643078"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537757","Source__c":"MONDO:0009071","Xref__c":"C537757"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009071","Source__c":"GARD:0009496","Xref__c":"MONDO:0009071"},{"URL__c":"https://medlineplus.gov/genetics/condition/renal-hypouricemia","Source__c":"GARD:0009496","Xref__c":"https://medlineplus.gov/genetics/condition/renal-hypouricemia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC2A9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc2a9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SLC22A12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc22a12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94088","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:94088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased amount of nitrogen in the form of urea in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003138","HPO_Synonym__c":"Increased blood urea nitrogen; Increased BUN","HPO_Name__c":"Increased blood urea nitrogen","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030973","HPO_Synonym__c":"Exercise-induced malaise; Postexertional malaise","HPO_Name__c":"Postexertional symptom exacerbation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003149","HPO_Synonym__c":"High urine uric acid level; Increased urinary urate","HPO_Name__c":"Hyperuricosuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012213","HPO_Synonym__c":"Decreased GFR; Impaired renal creatinine clearance; Reduced creatinine clearance","HPO_Name__c":"Decreased glomerular filtration rate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal functionality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012211","HPO_Synonym__c":"Abnormal kidney function; Abnormal renal function; Abnormality of renal physiology; Kidney function issue; Renal functional abnormality","HPO_Name__c":"Abnormal renal physiology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008651","HPO_Name__c":"Uric acid urolithiasis independent of gout","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mildly increased levels of protein in the urine (150-500 mg per day in adults).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012595","HPO_Name__c":"Mild proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94088","HPO_Frequency__c":"Always (100%)","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:94088","HPO_Frequency__c":"Frequent (30-79%)","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:94088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the renal tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000091","HPO_Synonym__c":"Abnormality of the renal tubule; Morphologic abnormality of the renal tubules","HPO_Name__c":"Abnormal renal tubule morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94088","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"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["hereditary renal hypouricemia"]}