{"Name":"Cystinuria","DiseaseID__c":"GARD:0006237","id":6237,"encodedName":"cystinuria","IsDeleted":false,"Disease_Name_Full__c":"Cystinuria","Xref_IDs__c":"85020001; C0010691; C84664; D003555; DOID:9266; E72.01; HP:0003131; MEDGEN:8226; MONDO:0009067; OMIM:220100; ORPHA:214","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":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009067","Disease_Description__c":"A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.","GARD_Name__c":"Cystinuria","GARD_Synonym__c":"csnu; csnu - cystinuria; cystinuria (disease); cystinuria-lysinuria syndrome; cystinuria, non-type i; cystinuria, type i; cystinuria, type ii; cystinuria, type iii; high urine cystine levels; nitroprusside-cyanide urine test positive","Curated_Disease_Description_Source__c":"GARD:0006237","Curated_Disease_Description__c":"Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream.  People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine. As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.","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:214","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009067","ORPHANET_ID__c":"ORPHA:214","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cistinuria","Spanish_Description_Source__c":"ORPHA:214","Spanish_Description__c":"Es un trastorno poco frecuente del transporte de aminoácidos tubulares renales caracterizado por la formación recurrente de cálculos renales de cistina.","Spanish_Disease_Name__c":"cistinuria","Spanish_GARD_Synonym__c":"cistinuria-lisinuria","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":"Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream.  People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine. As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.","Curated_Disease_Description_Source__c":"GARD:0006237","GARD_Synonym__c":"csnu; csnu - cystinuria; cystinuria (disease); cystinuria-lysinuria syndrome; cystinuria, non-type i; cystinuria, type i; cystinuria, type ii; cystinuria, type iii; high urine cystine levels; nitroprusside-cyanide urine test positive","Name":"Cystinuria","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"International Cystinuria Foundation","Website__c":"https://cystinuria.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:214"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0010691"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C003555","Source__c":"C0010691; MONDO:0009067","Xref__c":"D003555"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0010691","Source__c":"C0010691","Xref__c":"C0010691"},{"URL__c":"https://www.omim.org/entry/220100","Source__c":"C0010691; MONDO:0009067; ORPHA:214","Xref__c":"OMIM:220100"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84664","Source__c":"C0010691; MONDO:0009067","Xref__c":"C84664"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=85020001","Source__c":"C0010691; MONDO:0009067","Xref__c":"85020001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9266","Source__c":"MONDO:0009067","Xref__c":"DOID:9266"},{"URL__c":"https://www.orpha.net/en/disease/detail/214","Source__c":"C0010691; MONDO:0009067; ORPHA:214","Xref__c":"ORPHA:214"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8226","Source__c":"C0010691","Xref__c":"MEDGEN:8226"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009067","Source__c":"GARD:0006237","Xref__c":"MONDO:0009067"},{"URL__c":"https://medlineplus.gov/genetics/condition/cystinuria","Source__c":"GARD:0006237","Xref__c":"https://medlineplus.gov/genetics/condition/cystinuria"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E72.01","Source__c":"MONDO:0009067","Xref__c":"E72.01"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003131","Source__c":"C0010691","Xref__c":"HP:0003131"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK619248/","Source__c":"Gene Review","Xref__c":"NBK619248"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC3A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc3a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SLC7A9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc7a9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Frequent (30-79%)","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:214","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from the normal odor of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012088","HPO_Synonym__c":"Abnormal urinary odor; Abnormal urine smell","HPO_Name__c":"Abnormal urinary odor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033067","HPO_Name__c":"Cystine crystalluria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lower than normal concentration of citrate(3-) in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012405","HPO_Synonym__c":"Decreased urine citrate concentration","HPO_Name__c":"Hypocitraturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:214","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:214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Occasional (5-29%)","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:214","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of an amino acid metabolic process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004337","HPO_Name__c":"Abnormality of amino acid metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of cystine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003131","HPO_Synonym__c":"High urine cystine levels","HPO_Name__c":"Cystinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Very frequent (80-99%)","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:214","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:214","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of echogenic fetal bowel in which the hyperechogenicity is strictly limited to the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000916","HPO_Name__c":"Echogenic fetal colon","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["csnu"," csnu - cystinuria"," cystinuria (disease)"," cystinuria-lysinuria syndrome"," cystinuria, non-type i"," cystinuria, type i"," cystinuria, type ii"," cystinuria, type iii"," high urine cystine levels"," nitroprusside-cyanide urine test positive"]}