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Renal tubular acidosis type 3 with osteopetrosis
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Renal tubular acidosis type 3 with osteopetrosis

Clinical feature: 

Definition: This Renal tubular acidosis due to carboanhydrase 2 deficiency is characterized by impaired acidification in proximal and distal tubules, osteopterosis, and cerebral calcifications.

Systematic link table: 

Renal tubular acidosis
ATP6V0A4
ATP6V1B1
CA2
SLC4A1
SLC4A4
Renal tubular acidosis type 3 with osteopetrosis
CA2

Literature: 

Lotan D et al. (2006) Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
Borthwick KJ et al. (2003) A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.