Details of Disease

General Information of Disease (ID: DISXJ5O8)

Disease Name 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; PXE-like syndrome; pseudoxanthoma elasticum-like syndrome
Definition 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.
Disease Hierarchy
DISSCALK: Hereditary skin disorder
DISXJ5O8: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Disease Identifiers
MONDO ID
MONDO_0012570
MESH ID
C563654
UMLS CUI
C1835813
OMIM ID
610842
MedGen ID
332067
Orphanet ID
91135

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GGCX TT76OLR moderate Biomarker [1]
GGCX TT76OLR Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GGCX OTE0FNAP Strong Autosomal recessive [2]
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References

1 Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.Am J Pathol. 2009 Feb;174(2):534-40. doi: 10.2353/ajpath.2009.080865. Epub 2008 Dec 30.
2 Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16.