Osteopetrosis, AR

Defects in TCIRG1 are a cause of autosomal recessive osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The defect is an heterogeneous disorder of bone metabolism, which, if untreated, has a fatal outcome. It occurs in two forms: a severe autosomal recessive form, occurring in utero, infancy, or childhood, and a benign autosomal dominant form, occurring in adolescence or adulthood. Mild and atypical forms have also been reported.

Alternative names


Autosomal recessive Albers-Schonberg disease

Autosomal recessive marble bones


  • Other well-defined immunodeficiency syndromes

ICD code

ICD Q78.2


Autosomal recessive


*604592 T cell immune regulator 1; TCIRG1

#259700 Autosomal recessive osteopetrosis

Cross references

Phenotypically related immunodeficiencies


Incidence is not known yet.