Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Generalized arterial calcification of infancy 2

Generalized arterial calcification of infancy 2 is an autosomal recessive disorder caused by mutations of the ABCC6 gene. Along with calcification pseudoxanthomas may be present.

Systematic

Generalized arterial calcification of infancy
Generalized arterial calcification of infancy 1
Generalized arterial calcification of infancy 2
ABCC6

References:

1.

Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

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2.

Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

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3.

Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

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4.

Cheng KS et al. (2005) Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

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Update: Sept. 26, 2018