{"Name":"Bartter syndrome","DiseaseID__c":"GARD:0005893","id":5893,"encodedName":"bartter-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Bartter syndrome","Xref_IDs__c":"707742001; C0004775; C34412; D001477; DOID:445; E26.81; MEDGEN:2172; MONDO:0015231; OMIMPS:601678; ORPHA:112","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":6,"Description_Source__c":"MONDO:0015231","Disease_Description__c":"Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.","GARD_Name__c":"Bartter syndrome","GARD_Synonym__c":"aldosteronism with hyperplasia of the adrenal cortex; bartter disease; bartter syndrome with hypercalciuria and nephrocalcinosis; bartter's syndrome; hypokalemic alkalosis; renal tubular normotensive hypokalemic alkalosis with hypercalciuria; salt-losing tubular disorder, henle's loop type; salt-wasting tubulopathy, henle's loop type","Curated_Disease_Description_Source__c":"GARD:0005893","Curated_Disease_Description__c":"Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:112","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015231","ORPHANET_ID__c":"ORPHA:112","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bartter","Spanish_Description_Source__c":"ORPHA:112","Spanish_Description__c":"El síndrome de Bartter es un grupo de enfermedades tubulares renales poco frecuentes que se caracteriza por una alteración de la reabsorción salina en el segmento ascendente grueso del asa de Henle y, clínicamente, por asociación de alcalosis hipopotasémica, hipercalciuria / nefrocalcinosis, niveles elevados de renina y aldosterona plasmáticas, presión arterial baja y resistencia vascular a la angiotensina II.","Spanish_Disease_Name__c":"síndrome de bartter","Spanish_GARD_Synonym__c":"alcalosis tubular renal normotensa hipocaliémica con hipercalciuria; trastorno tubular de pérdida de sal tipo asa de henle; tubulopatía perdedora de sal tipo asa de henle","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":"Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.","Curated_Disease_Description_Source__c":"GARD:0005893","GARD_Synonym__c":"aldosteronism with hyperplasia of the adrenal cortex; bartter disease; bartter syndrome with hypercalciuria and nephrocalcinosis; bartter's syndrome; hypokalemic alkalosis; renal tubular normotensive hypokalemic alkalosis with hypercalciuria; salt-losing tubular disorder, henle's loop type; salt-wasting tubulopathy, henle's loop type","Name":"Bartter syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:112"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:112"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:112"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:112"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:112"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:112"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0004775"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=707742001","Source__c":"C0004775; MONDO:0015231","Xref__c":"707742001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0004775","Source__c":"C0004775","Xref__c":"C0004775"},{"URL__c":"https://www.orpha.net/en/disease/detail/112","Source__c":"C0004775; MONDO:0015231; ORPHA:112","Xref__c":"ORPHA:112"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2172","Source__c":"C0004775","Xref__c":"MEDGEN:2172"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001477","Source__c":"C0004775; MONDO:0015231","Xref__c":"D001477"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS601678","Source__c":"MONDO:0015231","Xref__c":"OMIMPS:601678"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34412","Source__c":"C0004775; MONDO:0015231","Xref__c":"C34412"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A445","Source__c":"MONDO:0015231","Xref__c":"DOID:445"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015231","Source__c":"GARD:0005893","Xref__c":"MONDO:0015231"},{"URL__c":"https://medlineplus.gov/genetics/condition/bartter-syndrome","Source__c":"GARD:0005893","Xref__c":"https://medlineplus.gov/genetics/condition/bartter-syndrome"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E26.81","Source__c":"MONDO:0015231","Xref__c":"E26.81"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:112","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:112","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["aldosteronism with hyperplasia of the adrenal cortex"," bartter disease"," bartter syndrome with hypercalciuria and nephrocalcinosis"," bartter's syndrome"," hypokalemic alkalosis"," renal tubular normotensive hypokalemic alkalosis with hypercalciuria"," salt-losing tubular disorder, henle's loop type"," salt-wasting tubulopathy, henle's loop type"]}