autosomal recessive osteopetrosis 1

info · Genetic

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.

Signs and symptoms

Femur fracture
Elevated circulating alkaline phosphatase concentration
Hepatomegaly
Calvarial osteosclerosis
Osteopetrosis
Increased bone mineral density
Increased circulating lactate dehydrogenase concentration
Splenomegaly
Craniosynostosis
Flared metaphysis

Also known as: OPTB1; autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1