Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal dominant osteopetrosis 1

Autosomal dominant osteopetrosis 1 is caused by mutations of the LRP5 gene.

Systematic

Osteopetrosis
Autosomal dominant osteopetrosis 1
LRP5
Combined renal tubular acidosis 3 with osteopetrosis 3

References:

1.

Van Wesenbeeck L et. al. (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

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2.

Bollerslev J et. al. (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.

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3.

Andersen PE et. al. (1987) Heterogeneity of autosomal dominant osteopetrosis.

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4.

Bollerslev J et. al. (1993) Autosomal dominant osteopetrosis.

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5.

Van Hul E et. al. (2002) Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

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6.

Janssens K et. al. (2002) Molecular genetics of too much bone.

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Update: Sept. 26, 2018