{"Name":"Autosomal recessive distal renal tubular acidosis","DiseaseID__c":"GARD:0004666","id":4666,"encodedName":"autosomal-recessive-distal-renal-tubular-acidosis","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive distal renal tubular acidosis","Xref_IDs__c":"C1864498; MEDGEN:351142; MONDO:0018440; ORPHA:402041","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018440","Disease_Description__c":"A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.","GARD_Name__c":"Autosomal recessive distal renal tubular acidosis","GARD_Synonym__c":"ar drta; autosomal recessive distal renal tubular acidosis (disease); autosomal recessive distal rta; distal renal tubular acidosis (disease), autosomal recessive","Curated_Disease_Description_Source__c":"GARD:0004666","Curated_Disease_Description__c":"Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. Instead, the acids are absorbed back into the bloodstream, and the blood becomes too acidic. This chemical imbalance, called metabolic acidosis, can result in a range of signs and symptoms that vary in severity. Metabolic acidosis often causes nausea, vomiting, and dehydration; affected infants tend to have problems feeding and gaining weight (failure to thrive). Most children and adults with renal tubular acidosis with deafness have short stature, and many develop kidney stones. The metabolic acidosis that occurs in renal tubular acidosis with deafness may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. Rarely, people with renal tubular acidosis with deafness have episodes of hypokalemic paralysis, a condition that causes extreme muscle weakness associated with low levels of potassium in the blood (hypokalemia). In people with renal tubular acidosis with deafness, hearing loss caused by changes in the inner ear (sensorineural hearing loss) usually begins between childhood and young adulthood, and gradually gets worse. An inner ear abnormality affecting both ears occurs in most people with this disorder. This feature, which is called enlarged vestibular aqueduct, can be seen with medical imaging. The vestibular aqueduct is a bony canal that runs from the inner ear into the temporal bone of the skull and toward the brain. The relationship between enlarged vestibular aqueduct and hearing loss is unclear. In renal tubular acidosis with deafness, enlarged vestibular aqueduct typically occurs in individuals whose hearing loss begins in childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:402041","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018440","ORPHANET_ID__c":"ORPHA:402041","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acidosis tubular renal distal autosómica recesiva","Spanish_Description_Source__c":"ORPHA:402041","Spanish_Description__c":"Es una forma poco frecuente de acidosis tubular renal proximal (ATRp) autosómica dominante caracterizada por un defecto aislado en el túbulo proximal que conduce a la disminución de la reabsorción de bicarbonato y, en consecuencia, provoca una pérdida de bicarbonato en la orina. Las complicaciones extrarrenales incluyen un ligero retraso del crecimiento y una reducción de la densidad ósea. Otras características posibles son la presencia de varias fracturas y el retraso puberal.","Spanish_Disease_Name__c":"acidosis tubular renal distal autosómica recesiva","Spanish_GARD_Synonym__c":"ar drta; atr distal autosómica recesiva","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 tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. Instead, the acids are absorbed back into the bloodstream, and the blood becomes too acidic. This chemical imbalance, called metabolic acidosis, can result in a range of signs and symptoms that vary in severity. Metabolic acidosis often causes nausea, vomiting, and dehydration; affected infants tend to have problems feeding and gaining weight (failure to thrive). Most children and adults with renal tubular acidosis with deafness have short stature, and many develop kidney stones. The metabolic acidosis that occurs in renal tubular acidosis with deafness may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. Rarely, people with renal tubular acidosis with deafness have episodes of hypokalemic paralysis, a condition that causes extreme muscle weakness associated with low levels of potassium in the blood (hypokalemia). In people with renal tubular acidosis with deafness, hearing loss caused by changes in the inner ear (sensorineural hearing loss) usually begins between childhood and young adulthood, and gradually gets worse. An inner ear abnormality affecting both ears occurs in most people with this disorder. This feature, which is called enlarged vestibular aqueduct, can be seen with medical imaging. The vestibular aqueduct is a bony canal that runs from the inner ear into the temporal bone of the skull and toward the brain. The relationship between enlarged vestibular aqueduct and hearing loss is unclear. In renal tubular acidosis with deafness, enlarged vestibular aqueduct typically occurs in individuals whose hearing loss begins in childhood.","Curated_Disease_Description_Source__c":"GARD:0004666","GARD_Synonym__c":"ar drta; autosomal recessive distal renal tubular acidosis (disease); autosomal recessive distal rta; distal renal tubular acidosis (disease), autosomal recessive","Name":"Autosomal recessive 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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:402041"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:402041"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0403554"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1864498"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004666","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/402041","Source__c":"C1864498; MONDO:0018440; ORPHA:402041","Xref__c":"ORPHA:402041"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864498","Source__c":"C1864498","Xref__c":"C1864498"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=351142","Source__c":"C1864498","Xref__c":"MEDGEN:351142"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018440","Source__c":"GARD:0004666","Xref__c":"MONDO:0018440"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXI1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATP6V1B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp6v1b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"WDR72","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATP6V0A4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp6v0a4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Otolaryngology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["ar drta"," autosomal recessive distal renal tubular acidosis (disease)"," autosomal recessive distal rta"," distal renal tubular acidosis (disease), autosomal recessive"]}