Osteopetrosis, Autosomal Recessive 3 (OPTB3)

Alias:

Osteopetrosis with Renal Tubular Acidosis

Guibaud-Vainsel Syndrome

Marble Brain Disease

Carbonic Anhydrase Ii Deficiency

Optb3

Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis

Autosomal Recessive Osteopetrosis 3

Carbonic Anhydrase 2 Deficiency

Renal Tubular Acidosis Type 3

Mixed Renal Tubular Acidosis

Mixed Rta

Autosomal Recessive Osteopetrosis 3 with Renal Tubular Acidosis

Osteopetrosis, Autosomal Recessive, Type 3

Carbonic Anhydrase Ii Deficiency Syndrome

Osteopetrosis Renal Tubular Acidosis

Carbonic Anhydrase Ii Variant

Carbonic Anhydrase 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Osteopetrosis, Autosomal Recessive 3, also known as osteopetrosis with renal tubular acidosis, is related to renal tubular acidosis, distal, 1 and distal primary acidosis, familial. An important gene associated with Osteopetrosis, Autosomal Recessive 3 is CA2 (Carbonic Anhydrase 2), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include bone and bone marrow, and related phenotypes are renal tubular acidosis and osteopetrosis

Related ID：

MALACARDS：OST163

OMIM：259730

MESH：D000141