Autosomal Dominant Distal Renal Tubular Acidosis

Alias:
Renal Tubular Acidosis, Distal, Autosomal Dominant
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Distal Renal Tubular Acidosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Distal Renal Tubular Acidosis, also known as renal tubular acidosis, distal, autosomal dominant, is related to renal tubular acidosis, distal, 1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Autosomal Dominant Distal Renal Tubular Acidosis is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)). The drugs Potassium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are impaired urinary acidification and nephrocalcinosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
8
11

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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