{"Name":"Proximal renal tubular acidosis","DiseaseID__c":"GARD:0016644","id":16644,"encodedName":"proximal-renal-tubular-acidosis","IsDeleted":false,"Disease_Name_Full__c":"Proximal renal tubular acidosis","Xref_IDs__c":"24790002; C0268435; C123218; DOID:0061165; HP:0002049; MEDGEN:82804; MONDO:0008369; OMIM:179830; ORPHA:47159","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008369","Disease_Description__c":"A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.","GARD_Name__c":"Proximal renal tubular acidosis","GARD_Synonym__c":"bicarbonate reabsorption defect; proximal tubular acidosis; 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prta","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 renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.","Curated_Disease_Description_Source__c":"MONDO:0008369","GARD_Synonym__c":"bicarbonate reabsorption defect; proximal tubular acidosis; prta; renal tubular acidosis type 2; renal tubular acidosis, proximal; renal tubular acidosis, rate type; renal tubular acidosis, type 2; renal tubular acidosis, type ii; rta (renal tubular acidosis) type ii; rta, proximal type; rta, rate type; type 2 renal tubular acidosis; type 2 rta; type ii renal tubular acidosis","Name":"Proximal renal tubular acidosis","estimateUsa":""}],"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":"All ages","Provided_By__c":"ORPHA:47159"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24790002","Source__c":"C0268435; MONDO:0008369","Xref__c":"24790002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82804","Source__c":"C0268435","Xref__c":"MEDGEN:82804"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268435","Source__c":"C0268435","Xref__c":"C0268435"},{"URL__c":"https://www.orpha.net/en/disease/detail/47159","Source__c":"C0268435; MONDO:0008369; ORPHA:47159","Xref__c":"ORPHA:47159"},{"URL__c":"https://www.omim.org/entry/179830","Source__c":"C0268435; MONDO:0008369; ORPHA:47159","Xref__c":"OMIM:179830"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008369","Source__c":"GARD:0016644","Xref__c":"MONDO:0008369"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002049","Source__c":"C0268435","Xref__c":"HP:0002049"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123218","Source__c":"C0268435","Xref__c":"C123218"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061165","Source__c":"MONDO:0008369","Xref__c":"DOID:0061165"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000585","HPO_Synonym__c":"Calcific band keratopathy","HPO_Name__c":"Band keratopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012573","HPO_Name__c":"Global proximal tubulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of metabolic acidosis with increased serum chloride levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004918","HPO_Synonym__c":"Non-gap acidosis","HPO_Name__c":"Hyperchloremic metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; 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Hypomineralized enamel has a brown discoloration and brittle aspect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006285","HPO_Synonym__c":"Decreased enamel mineralisation; Hypomineralization of enamel; Mottled tooth enamel; Poorly mineralized tooth enamel","HPO_Name__c":"Enamel hypomineralization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased excretion of phosphates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003109","HPO_Synonym__c":"High urine phosphate levels; Phosphaturia","HPO_Name__c":"Hyperphosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001682","HPO_Synonym__c":"Narrowing of blood vessel below aortic heart valve; 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Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased concentration of hydrogencarbonate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003646","HPO_Synonym__c":"Increased urine bicarbonate concentration; Increased urine HCO3 concentration","HPO_Name__c":"Bicarbonaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001530","HPO_Synonym__c":"Postnatal onset of mild growth retardation","HPO_Name__c":"Mild postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:47159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003149","HPO_Synonym__c":"High urine uric acid level; 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