{"Name":"Autosomal dominant distal renal tubular acidosis","DiseaseID__c":"GARD:0004668","id":4668,"encodedName":"autosomal-dominant-distal-renal-tubular-acidosis","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant distal renal tubular acidosis","Xref_IDs__c":"CN280572; MEDGEN:963849; MONDO:0008368; ORPHA:93608","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008368","Disease_Description__c":"A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.","GARD_Name__c":"Autosomal dominant distal renal tubular acidosis","GARD_Synonym__c":"ad drta; distal renal tubular acidosis (disease), autosomal dominant; drta1; renal tubular acidosis, distal 1; renal tubular acidosis, distal, 1; rta, classic type; rta, distal type, autosomal dominant; rta, gradient type","Curated_Disease_Description_Source__c":"MONDO:0008368","Curated_Disease_Description__c":"A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:93608","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008368","ORPHANET_ID__c":"ORPHA:93608","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acidosis tubular renal distal autosómica dominante","Spanish_Description_Source__c":"ORPHA:93608","Spanish_Description__c":"Es una forma poco frecuente de acidosis tubular renal distal autosómica dominante caracterizada por acidosis metabólica hiperclorémica que suele asociarse a hipopotasemia. La enfermedad debuta en la adolescencia o en la edad adulta y las manifestaciones iniciales pueden incluir poliuria, polidipsia, debilidad muscular y cansancio. También puede asociar osteomalacia u osteopenia, hipercalciuria, nefrolitiasis y nefrocalcinosis. No se ha descrito insuficiencia renal.","Spanish_Disease_Name__c":"acidosis tubular renal distal autosómica dominante","Spanish_GARD_Synonym__c":"ad drta","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 rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.","Curated_Disease_Description_Source__c":"MONDO:0008368","GARD_Synonym__c":"ad drta; distal renal tubular acidosis (disease), autosomal dominant; drta1; renal tubular acidosis, distal 1; renal tubular acidosis, distal, 1; rta, classic type; rta, distal type, autosomal dominant; rta, gradient type","Name":"Autosomal dominant distal renal tubular acidosis","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:93608"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:93608"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004668","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK547595","Source__c":"Gene Review","Xref__c":"NBK547595"},{"URL__c":"https://www.orpha.net/en/disease/detail/93608","Source__c":"CN280572; MONDO:0008368","Xref__c":"ORPHA:93608"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008368","Source__c":"GARD:0004668","Xref__c":"MONDO:0008368"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN280572","Source__c":"CN280572","Xref__c":"CN280572"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=963849","Source__c":"CN280572","Xref__c":"MEDGEN:963849"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC4A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc4a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["ad drta"," distal renal tubular acidosis (disease), autosomal dominant"," drta1"," renal tubular acidosis, distal 1"," renal tubular acidosis, distal, 1"," rta, classic type"," rta, distal type, autosomal dominant"," rta, gradient type"]}