Disease

Osteopetrosis with renal tubular acidosis1, 2

Gene

CA2

Inheritance AR
Current Treatments Sodium bicarbonate, potassium citrate, calcium and vitamin D
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test skeletal survey, serum potassium, bicarbonate and anion gap, urinary pH2
Disease Frequency (per 100,000) 0.44
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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