Combined renal tubular acidosis 3 with osteopetrosis 3

Renal tubular acidosis type 3 is an autosomal recessive disorder due to carboanhydrase 2, gene CA2, deficiency. It is characterized by impaired acidification in proximal and distal tubules, osteopterosis type 3, and cerebral calcifications.

Systematic

Renal tubular acidosis
	Combined renal tubular acidosis 3 with osteopetrosis 3
		CA2
	Distal renal tubular acidosis (autosomal dominant)
	Distal renal tubular acidosis (autosomal recessive)
	Distal renal tubular acidosis with deafness (autosomal recessive)
	Proximal renal tubular acidosis
	Renal tubular acidosis with arthrogryposis