{"Name":"Familial renal glucosuria","DiseaseID__c":"GARD:0007548","id":7548,"encodedName":"familial-renal-glucosuria","IsDeleted":false,"Disease_Name_Full__c":"Familial renal glucosuria","Xref_IDs__c":"226309007; 267430007; C3245525; D006030; DOID:0070613; DOID:9432; MEDGEN:757652; MONDO:0009297; OMIM:233100; ORPHA:69076","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009297","Disease_Description__c":"A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.","GARD_Name__c":"Familial renal glucosuria","GARD_Synonym__c":"familial renal glycosuria; glys; renal diabetes; renal glucosuria, autosomal dominant; renal glycosuria; sglt2 deficiency","Curated_Disease_Description_Source__c":"GARD:0007548","Curated_Disease_Description__c":"Renal glycosuria is a rare condition in which glucose is excreted in the urine despite normal or low blood glucose levels. With normal kidney function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. However, in people with Renal glycosuria, glucose is abnormally eliminated in the urine due to improper functioning of the renal tubules, which are the primary components of the filtering units of the kidneys. In most people with Renal glycosuria, there are no apparent symptoms or serious effects. Rare cases of polyuria (increased urine output), enuresis (involuntary urination), and mild delays in growth and maturation during puberty have been reported. When Renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be caused by genetic changes in the SLC5A2 gene.","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:69076","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009297","ORPHANET_ID__c":"ORPHA:69076","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Glucosuria renal familiar","Spanish_Description_Source__c":"ORPHA:69076","Spanish_Description__c":"Es un trastorno genético poco frecuente del transporte de glucosa caracterizado por la presencia de glucosuria aislada persistente en ausencia de disfunción tubular proximal e hiperglucemia. El trastorno es benigno en la mayoría de los casos, aunque en ocasiones, en casos graves, puede manifestarse con poliuria, enuresis, un leve retraso del crecimiento y de la maduración puberal, hipercalciuria, aminoaciduria, una mayor incidencia de infecciones urinarias y deshidratación episódica y cetosis durante el embarazo y el ayuno.","Spanish_Disease_Name__c":"glucosuria renal familiar","Spanish_GARD_Synonym__c":"deficiencia de sglt2; glicosuria 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 glycosuria is a rare condition in which glucose is excreted in the urine despite normal or low blood glucose levels. With normal kidney function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. However, in people with Renal glycosuria, glucose is abnormally eliminated in the urine due to improper functioning of the renal tubules, which are the primary components of the filtering units of the kidneys. In most people with Renal glycosuria, there are no apparent symptoms or serious effects. Rare cases of polyuria (increased urine output), enuresis (involuntary urination), and mild delays in growth and maturation during puberty have been reported. When Renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be caused by genetic changes in the SLC5A2 gene.","Curated_Disease_Description_Source__c":"GARD:0007548","GARD_Synonym__c":"familial renal glycosuria; glys; renal diabetes; renal glucosuria, autosomal dominant; renal glycosuria; sglt2 deficiency","Name":"Familial renal glucosuria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"}],"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:69076"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0017980"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007548","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/69076","Source__c":"C3245525; MONDO:0009297; ORPHA:69076","Xref__c":"ORPHA:69076"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3245525","Source__c":"C3245525","Xref__c":"C3245525"},{"URL__c":"https://www.omim.org/entry/233100","Source__c":"C3245525; MONDO:0009297; ORPHA:69076","Xref__c":"OMIM:233100"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9432","Source__c":"MONDO:0009297","Xref__c":"DOID:9432"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=757652","Source__c":"C3245525","Xref__c":"MEDGEN:757652"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006030","Source__c":"C3245525; MONDO:0009297","Xref__c":"D006030"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=267430007","Source__c":"MONDO:0009297","Xref__c":"267430007"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=226309007","Source__c":"C3245525","Xref__c":"226309007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009297","Source__c":"GARD:0007548","Xref__c":"MONDO:0009297"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070613","Source__c":"MONDO:0009297","Xref__c":"DOID:0070613"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC5A2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000805","HPO_Name__c":"Enuresis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","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:69076","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008855","HPO_Synonym__c":"Moderate growth delay in children","HPO_Name__c":"Moderate postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004924","HPO_Synonym__c":"Abnormal glucose oral tolerance test","HPO_Name__c":"Abnormal oral glucose tolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040217","HPO_Synonym__c":"Elevated glycated hemoglobin; Elevated glycosylated hemoglobin; Elevated HbA1c; Increased HbA1c levels","HPO_Name__c":"Elevated hemoglobin A1c","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal concentration of insulin in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040214","HPO_Synonym__c":"Abnormal insulin level","HPO_Name__c":"Abnormal circulating insulin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of elevated levels of ketone bodies in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001946","HPO_Synonym__c":"High levels of ketone bodies; Hyperketosis","HPO_Name__c":"Ketosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000855","HPO_Synonym__c":"Body fails to respond to insulin","HPO_Name__c":"Insulin resistance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003074","HPO_Synonym__c":"High blood glucose; High blood sugar","HPO_Name__c":"Hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000124","HPO_Synonym__c":"Abnormal function of filtrating structures in kidney; Renal tubular defect","HPO_Name__c":"Renal tubular dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69076","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003076","HPO_Synonym__c":"Glucose in urine; Glucosuria","HPO_Name__c":"Glycosuria","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":["familial renal glycosuria"," glys"," renal diabetes"," renal glucosuria, autosomal dominant"," renal glycosuria"," sglt2 deficiency"]}