Autosomal dominant familial porencephaly

An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype.

Disease Alternative Name

marble bone disease
albers-schonberg disease
autosomal dominant osteopetrosis
benign osteopetrosis
autosomal dominant osteopetrosis type 2

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