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GTR Home > Conditions/Phenotypes > Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

Synonyms
PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Unknown inheritance (Orphanet)

Summary

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs. [from ORDO]

Available tests

30 tests are in the database for this condition.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: VKCFD1, GGCX
    Summary: gamma-glutamyl carboxylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

  • Uitto et al., 2012
    Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting

Clinical resources

Molecular resources

Consumer resources

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