Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Impaired Intellectual Development (PRTA-OA)

Alias:

Autosomal Recessive Proximal Renal Tubular Acidosis

Renal Tubular Acidosis, Proximal, with Ocular Abnormalities

Proximal Renal Tubular Acidosis with Ocular Abnormalities and Intellectual Disability

Acidosis, Tubular, Renal, Proximal, with Ocular Abnormalities and Mental Retardation

Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation

Proximal Renal Tubular Acidosis with Ocular Abnormalities

Rta, Proximal, Autosomal Recessive

Autosomal Recessive Proximal Rta

Ar Prta

Prta-Oa

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Impaired Intellectual Development, also known as autosomal recessive proximal renal tubular acidosis, is related to renal tubular acidosis, proximal and metabolic acidosis. An important gene associated with Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Impaired Intellectual Development 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 liver, and related phenotypes are intellectual disability and cerebral calcification

Related ID：

MALACARDS：RNL131

OMIM：604278

MESH：D000141