Disease

Osteopetrosis type 71, 2, 3

Gene

TNFRSF11A

Inheritance AR
Current Treatments Bone marrow transplant (hematopoietic stem cell transplantation (HSCT))
Evidence for Treatment guideline4
Non-Molecular Testing Availability yes
Non-Molecular Test skeletal survey3
Disease Frequency (per 100,000) 0.45
Genes Included in Disease Frequency TCIRG1, CLCN7, CA2, SNX10, TNFRSF11A
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Osteopetrosis&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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