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Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes , and later in blood vessels in the form of premature atherosclerosis .
Angioid streaks are often associated with pseudoxanthoma elasticum, but have been found to occur in conjunction with other disorders, including Paget's disease, sickle cell disease and Ehlers–Danlos syndrome. These streaks can have a negative impact on vision due to choroidal neovascularization or choroidal rupture.
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Localized acquired cutaneous pseudoxanthoma elasticum, Perforating periumbilical calcific elastosis, [1] and Periumbilical perforating pseudoxanthoma elasticum Histopathology of perforating calcific elastosis: Clumping of short elastic fibers in the dermis.
Perforating calcific elastosis (localized acquired cutaneous pseudoxanthoma elasticum, perforating periumbilical calcific elastosis, periumbilical perforating pseudoxanthoma elasticum) Pseudoxanthoma elasticum (Grönblad–Strandberg syndrome) Reactive perforating collagenosis; Schweninger–Buzzi anetoderma; Sclerotic fibroma; Striae atrophicans
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As children affected by GACI due to ABCC6 Deficiency get older, they can develop characteristics similar to pseudoxanthoma elasticum (PXE). This condition affects the elastic tissue of the skin, the eye, cardiovascular and gastrointestinal systems. [7] [8] [9]
64131 233781 Ensembl ENSG00000103489 ENSG00000285395 ENSMUSG00000030657 UniProt Q86Y38 Q811B1 RefSeq (mRNA) NM_022166 NM_175645 RefSeq (protein) NP_071449 NP_783576 Location (UCSC) Chr 16: 17.1 – 17.47 Mb Chr 7: 116.98 – 117.27 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Xylosyltransferase 1 is an enzyme that in humans is encoded by the XYLT1 gene. Xylosyltransferase (XT; EC ...