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
Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 7
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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7.

OMIM.ORG article

Omim 607634 [^]
Update: April 29, 2019