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.

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

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

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

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

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

7.	OMIM.ORG article Omim 607634

Update: June 23, 2025

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