Osteopetrosis is a heterogeneous group of sclerosing bone diseases due to impaired bone and cartilage resorption, resulting from absence or defective function of osteoclasts (Steward 2003). The overall incidence of these conditions is difficult to estimate, but autosomal recessive osteopetrosis has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis has an incidence of 1 in 20,000 births (Stark and Savarirayan 2009).
Synonyms and Related Disorders
Albers-Schonberg disease; Infantile malignant osteopetrosis; Ostoclast-poor osteopetrosis
Inheritance of recognized subtypes of human osteopetrosis (Stark and Savarirayan 2009; Steward 2003, 2010)
Autosomal recessive osteopetrosis
Classic (infantile malignant osteopetrosis): Vacuolar proton pump deficiency (ATP6i/TCIRG1) (locus 11q13.3-q13.5)
Neuropathic (osteopetrosis and infantile neuroaxonal dystrophy): CLC-7 chloride pump deficiency (loss of function CLCN7mutations) (locus...
KeywordsPulmonary Arterial Hypertension Optic Atrophy Renal Tubular Acidosis Ectodermal Dysplasia Common Variable Immune Deficiency
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