Renal Tubular Acidosis, Proximal (PRTA)

Alias:
Proximal Renal Tubular Acidosis
Renal Tubular Acidosis, Type Ii
Renal Tubular Acidosis Type 2
Renal Tubular Acidosis Ii
Rta, Proximal Type
Rta, Rate Type
Prta
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Renal Tubular Acidosis, Proximal, also known as proximal renal tubular acidosis, is related to renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development and autosomal dominant proximal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Proximal is SLC4A4 (Solute Carrier Family 4 Member 4). The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are hyperchloremic metabolic acidosis and bicarbonate-wasting renal tubular acidosis

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
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1
4
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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