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body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description 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.
Uniprot Description Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE.
Mondo Term and Equivalent IDs
MONDO:0012570: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C563654
OMIM:610842
Orphanet:91135
SCTID:717941005
UMLS:C1835813
UMLS:C4049241
MONDO:0012570
High level summary of knowledge for a disease, including descriptions and datasource references.