Autosomal Recessive Distal Renal Tubular Acidosis

Alias:
Renal Tubular Acidosis, Distal, Autosomal Recessive
Autosomal Recessive Distal Rta
Ar Drta
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Recessive Distal Renal Tubular Acidosis, also known as renal tubular acidosis, distal, autosomal recessive, is related to renal tubular acidosis, distal, 3, with or without sensorineural hearing loss and hereditary elliptocytosis. An important gene associated with Autosomal Recessive Distal Renal Tubular Acidosis is ATP6V0A4 (ATPase H+ Transporting V0 Subunit A4), and among its related pathways/superpathways are Insulin receptor recycling and Proximal tubule transport. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related phenotype is renal/urinary system.
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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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5
29
12

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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