Renal Tubular Transport Disease

Alias:
Renal Tubular Transport, Inborn Errors
Renal Tubular Transport Disorders Inborn
Inborn Renal Tubular Transport Disorder
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Renal Tubular Transport Disease, also known as renal tubular transport, inborn errors, is related to fanconi syndrome and renal tubular acidosis. An important gene associated with Renal Tubular Transport Disease is CBS (Cystathionine Beta-Synthase), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are renal/urinary system and homeostasis/metabolism
Related ID:
MESH:D015499

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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42
333
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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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