Renal Tubular Acidosis, Distal, 1 (DRTA1)

Alias:
Renal Tubular Acidosis I
Drta1
Acidosis, Tubular, Renal, Distal, Autosomal Dominant
Autosomal Dominant Distal Renal Tubular Acidosis
Rta, Distal Type, Autosomal Dominant
Autosomal Dominant Rta Distal Type
Distal Renal Tubular Acidosis 1
Distal Renal Tubular Acidosis
Rta, Gradient Type
Rta, Classic Type
Rta Gradient Type
Rta Classic Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Renal Tubular Acidosis, Distal, 1, also known as renal tubular acidosis i, is related to renal tubular acidosis, distal, 4, with hemolytic anemia and autosomal recessive distal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Distal, 1 is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Signaling by Receptor Tyrosine Kinases. The drugs Potassium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotype is renal/urinary system.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
--
6
33
27

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
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Score
Mutations
No data available

Related Drugs

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No data available

Disease Model

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

References Literature

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PMID
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IF
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