{"Name":"Bartter disease type 3","DiseaseID__c":"GARD:0009659","id":9659,"encodedName":"bartter-disease-type-3","IsDeleted":false,"Disease_Name_Full__c":"Bartter disease type 3","Xref_IDs__c":"700111000; C1846343; DOID:0110144; MEDGEN:335399; MONDO:0011822; OMIM:607364; ORPHA:93605","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0011822","Disease_Description__c":"A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.","GARD_Name__c":"Bartter disease type 3","GARD_Synonym__c":"adult bartter syndrome; barts3; bartter syndrome type 3; bartter syndrome type iii; bartter's syndrome type 3; classic bartter syndrome","Curated_Disease_Description_Source__c":"MONDO:0011822","Curated_Disease_Description__c":"A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:93605","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011822","ORPHANET_ID__c":"ORPHA:93605","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bartter tipo 3","Spanish_Description_Source__c":"ORPHA:93605","Spanish_Description__c":"Es una forma del síndrome de Bartter caracterizada por una edad de inicio más tardía que en los otros tipos del síndrome, que típicamente se presenta después del primer año de vida con fallo de medro, alcalosis metabólica hipopotasémica e hipoclorémica, niveles elevados de renina y aldosterona en plasma y niveles bajos a normales de presión arterial.","Spanish_Disease_Name__c":"síndrome de bartter tipo 3","Spanish_GARD_Synonym__c":"síndrome de bartter tipo iii","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":"A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.","Curated_Disease_Description_Source__c":"MONDO:0011822","GARD_Synonym__c":"adult bartter syndrome; barts3; bartter syndrome type 3; bartter syndrome type iii; bartter's syndrome type 3; classic bartter syndrome","Name":"Bartter disease type 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:93605"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93605"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:93605"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:93605"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1846343"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009659","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/607364","Source__c":"C1846343; MONDO:0011822; ORPHA:93605","Xref__c":"OMIM:607364"},{"URL__c":"https://www.orpha.net/en/disease/detail/93605","Source__c":"C1846343; MONDO:0011822; ORPHA:93605","Xref__c":"ORPHA:93605"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335399","Source__c":"C1846343","Xref__c":"MEDGEN:335399"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110144","Source__c":"MONDO:0011822","Xref__c":"DOID:0110144"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=700111000","Source__c":"C1846343; MONDO:0011822","Xref__c":"700111000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846343","Source__c":"C1846343","Xref__c":"C1846343"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011822","Source__c":"GARD:0009659","Xref__c":"MONDO:0011822"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CLCNKB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/clcnkb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607364","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003127","HPO_Synonym__c":"Low urine calcium levels","HPO_Name__c":"Hypocalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"Any structural abnormality of the choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000610","HPO_Synonym__c":"Abnormality of the choroid","HPO_Name__c":"Abnormal choroid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"A structural abnormality of retinal vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008046","HPO_Synonym__c":"Abnormality of retina blood vessels; Abnormality of the retinal vasculature","HPO_Name__c":"Abnormal retinal vascular morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"Any impairment of reabsorption of chloride by the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005579","HPO_Synonym__c":"Impaired reabsorption of Cl; Impaired reabsorption of Cl-","HPO_Name__c":"Impaired renal tubular reabsorption of chloride","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000841","HPO_Name__c":"Hyperactive renin-angiotensin system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","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":"OMIM:607364","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001960","HPO_Name__c":"Hypokalemic metabolic alkalosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"An abnormality of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000591","HPO_Synonym__c":"Abnormality of the sclera","HPO_Name__c":"Abnormal sclera morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"An increased rate of urine production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000103","HPO_Synonym__c":"Increased urine output","HPO_Name__c":"Polyuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000859","HPO_Synonym__c":"Elevated plasma aldosterone; Increased aldosterone; Increased aldosterone production; Mineralocorticoid excess","HPO_Name__c":"Increased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"An increased concentration of potassium(1+) in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003081","HPO_Synonym__c":"Hyperkaliuresis; Increased urinary K; Increased urinary potassium","HPO_Name__c":"Increased urinary potassium","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607364","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"High urine potassium in the presence of hypokalemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000128","HPO_Synonym__c":"Renal K wasting","HPO_Name__c":"Renal potassium wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000127","HPO_Synonym__c":"Loss of salt in urine; Renal salt-wasting; Salt wasting; Salt-wasting","HPO_Name__c":"Renal salt wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"An increased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000848","HPO_Synonym__c":"Elevated blood renin level; Elevated plasma renin; Hyperreninemia; Increased circulating renin level; Increased plasma renin; Increased serum renin","HPO_Name__c":"Increased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607364","Feature__r":{"HPO_Description__c":"An increased concentration of chloride in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002914","HPO_Synonym__c":"Increased urinary chloride","HPO_Name__c":"Hyperchloriduria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["adult bartter syndrome"," barts3"," bartter syndrome type 3"," bartter syndrome type iii"," bartter's syndrome type 3"," classic bartter syndrome"]}