Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency

PXE-like disorder with multiple coagulation factor deficiency is autosomal recessive and caused by mutations of the GGCX gene.

Systematic

Disturbances of vitamin K metabolism
Combined deficiency of vitamin K-dependent clotting factors type 1
Combined deficiency of vitamin K-dependent clotting factors type 2
Coumarin resistance
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
GGCX

References:

1.

Li Q et al. (2009) Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

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2.

Vanakker OM et al. (2007) Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

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3.

Rongioletti F et al. (1989) Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors.

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4.

Macmillan DC et al. (1971) Pseudoxanthoma elasticum and a coagulation defect.

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Update: Sept. 26, 2018