Conditions / Genetic
autosomal recessive osteopetrosis 3
info · Genetic
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
Signs and symptoms
- Distal renal tubular acidosis
- Osteopetrosis
- Cerebral calcification
- Intellectual disability
- Basal ganglia calcification
- Visual loss
- Elevated serum acid phosphatase
- Short stature
- Diaphyseal sclerosis
- Optic nerve compression
Also known as: Guibaud-Vainsel syndrome; OPTB3; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; marble brain disease