Different types:

-        OPBT1 [MIM 259 700], mutation of the TCIRG1 gene (11q13.2), see Albers-Schönberg disease

-        OPBT2 [MIM 259 710]: mutation of the TNFSF11 gene (13q 13): form with rare osteoclasts, less severe form

-        OPBT3 [MIM 259 730]: mutation of the CA2 gene (8q21)associated with cerebral calcifications and renal tubular acidosis see Deficit in carbonic anhydrase II

-        OPBT4 [MIM 611 490]: mutation of CLCN7 gene (16p13), one of the causes of the malignant form, see Albers-Schönberg disease

-        OPBT5 [MIM 259 720]: mutation of the OSTM1 gene (6q21), one of the causes of malignant form, see Albers-Schönberg disease

-        OPBT6 [MIM 611 497]: mutation of the PLEKHM1 gene (17q21) causing an intermediate form of osteopetrosis

-        OPBT7 [MIM 612 031]: mutation of the TNFRSF11A gene (18q22), severe forms with hypogammaglobulinemia

-        OPBT8 [MIM 615 085]: mutation of the SNX10 gene (7p15)

Anesthetic implications:

see Albers-Schönberg disease

References :

Updated: November 2018