Osteopetrosis with Renal Tubular Acidosis

**Semantic type:** Disease or Syndrome

**Definition:** A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures.

**Synonyms:** - Autosomal Recessive Osteopetrosis 3 - Autosomal Recessive Osteopetrosis, Type 3 - Carbonic Anhydrase II Deficiency - Guibaud-Vainsel Syndrome - Marble Brain Disease - OPTB3