{"Name":"Adenine phosphoribosyltransferase deficiency","DiseaseID__c":"GARD:0000546","id":546,"encodedName":"adenine-phosphoribosyltransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Adenine phosphoribosyltransferase deficiency","Xref_IDs__c":"124274002; C0268120; C121564; C538228; DOID:0060350; MEDGEN:82772; MONDO:0013869; NBK100238; OMIM:614723; ORPHA:976","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0013869","Disease_Description__c":"A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.","GARD_Name__c":"Adenine phosphoribosyltransferase deficiency","GARD_Synonym__c":"2,8-dihydroxyadenine urolithiasis; 2,8-dihydroxyadeninuria disease; adenine phosphoribosyl transferase deficiency; aprt deficiency; aprtd; deficiency of adenine phosphoribosyltransferase; deficiency of amp pyrophorylase; nephrolithiasis, dha; urolithiasis, dha","Curated_Disease_Description_Source__c":"MONDO:0013869","Curated_Disease_Description__c":"Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine. Affected individuals can develop features of this condition anytime from infancy to late adulthood. When the condition appears in infancy, the first sign is usually the presence of tiny grains of reddish-brown material in the baby's diaper caused by the passing of stones. Later, recurrent kidney and urinary tract stones can lead to problems with kidney function beginning as early as mid- to late childhood. Approximately half of individuals with APRT deficiency first experience signs and symptoms of the condition in adulthood. The first features in affected adults are usually kidney stones and related urinary problems. Other signs and symptoms of APRT deficiency caused by kidney and urinary tract stones include fever, urinary tract infection, blood in the urine (hematuria), abdominal cramps, nausea, and vomiting. Without treatment, kidney function can decline, which may lead to end-stage renal disease (ESRD). ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. The features of this condition and their severity vary greatly among affected individuals, even among members of the same family. It is estimated that 15 to 20 percent of people with APRT deficiency do not have any signs or symptoms of the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:976","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013869","ORPHANET_ID__c":"ORPHA:976","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de adenina fosforribosiltransferasa","Spanish_Description_Source__c":"ORPHA:976","Spanish_Description__c":"Es una nefropatía genética poco frecuente secundaria a un trastorno del metabolismo de las purinas caracterizado por la formación aumentada e hiperexcreción urinaria de 2,8-dihidroxiadenina (2,8-DHA) en la orina, causando urolitiasis y nefropatía cristalina.","Spanish_Disease_Name__c":"deficiencia de adenina fosforribosiltransferasa","Spanish_GARD_Synonym__c":null,"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":"Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine. Affected individuals can develop features of this condition anytime from infancy to late adulthood. When the condition appears in infancy, the first sign is usually the presence of tiny grains of reddish-brown material in the baby's diaper caused by the passing of stones. Later, recurrent kidney and urinary tract stones can lead to problems with kidney function beginning as early as mid- to late childhood. Approximately half of individuals with APRT deficiency first experience signs and symptoms of the condition in adulthood. The first features in affected adults are usually kidney stones and related urinary problems. Other signs and symptoms of APRT deficiency caused by kidney and urinary tract stones include fever, urinary tract infection, blood in the urine (hematuria), abdominal cramps, nausea, and vomiting. Without treatment, kidney function can decline, which may lead to end-stage renal disease (ESRD). ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. The features of this condition and their severity vary greatly among affected individuals, even among members of the same family. It is estimated that 15 to 20 percent of people with APRT deficiency do not have any signs or symptoms of the condition.","Curated_Disease_Description_Source__c":"MONDO:0013869","GARD_Synonym__c":"2,8-dihydroxyadenine urolithiasis; 2,8-dihydroxyadeninuria disease; adenine phosphoribosyl transferase deficiency; aprt deficiency; aprtd; deficiency of adenine phosphoribosyltransferase; deficiency of amp pyrophorylase; nephrolithiasis, dha; urolithiasis, dha","Name":"Adenine phosphoribosyltransferase deficiency","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"}],"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":"Elderly","Provided_By__c":"ORPHA:976"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:976"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:976"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:976"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:976"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268120"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000546","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK100238","Source__c":"Gene Review","Xref__c":"NBK100238"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C121564","Source__c":"C0268120; MONDO:0013869","Xref__c":"C121564"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060350","Source__c":"MONDO:0013869","Xref__c":"DOID:0060350"},{"URL__c":"https://www.orpha.net/en/disease/detail/976","Source__c":"C0268120; MONDO:0013869; ORPHA:976","Xref__c":"ORPHA:976"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82772","Source__c":"C0268120","Xref__c":"MEDGEN:82772"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124274002","Source__c":"C0268120; MONDO:0013869","Xref__c":"124274002"},{"URL__c":"https://www.omim.org/entry/614723","Source__c":"C0268120; MONDO:0013869; ORPHA:976","Xref__c":"OMIM:614723"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538228","Source__c":"MONDO:0013869","Xref__c":"C538228"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268120","Source__c":"C0268120","Xref__c":"C0268120"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013869","Source__c":"GARD:0000546","Xref__c":"MONDO:0013869"},{"URL__c":"https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency","Source__c":"GARD:0000546","Xref__c":"https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APRT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aprt","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:976","HPO_Frequency__c":"Frequent (30-79%)","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:976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Low output of urine, clinically classified as an output below 300-500ml/day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100520","HPO_Name__c":"Oliguria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:976","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:976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005110","HPO_Synonym__c":"Quivering upper heart chambers resulting in irregular heartbeat","HPO_Name__c":"Atrial fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to completely empty the urinary bladder during the process of urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000016","HPO_Synonym__c":"Increased post-void residual urine volume","HPO_Name__c":"Urinary retention","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:976","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:976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:976","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:976","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:976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in beginning the process of urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000019","HPO_Synonym__c":"Difficulty with flow","HPO_Name__c":"Urinary hesitancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:976","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:976","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hematuria that is visible upon inspection of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012587","HPO_Synonym__c":"Bloody urine; Gross hematuria","HPO_Name__c":"Macroscopic hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:976","HPO_Frequency__c":"Occasional (5-29%)","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:976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011848","HPO_Name__c":"Abdominal colic","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["2,8-dihydroxyadenine urolithiasis"," 2,8-dihydroxyadeninuria disease"," adenine phosphoribosyl transferase deficiency"," aprt deficiency"," aprtd"," deficiency of adenine phosphoribosyltransferase"," deficiency of amp pyrophorylase"," nephrolithiasis, dha"," urolithiasis, dha"]}