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Pseudoxanthoma elasticum, modifier of severity of

MedGen UID:
481022
•Concept ID:
C3279392
•
Finding
Synonyms: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF; PXE, MODIFIER OF SEVERITY OF
 
OMIM®: 264800; 608124; 608125

Professional guidelines

PubMed

Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167

Recent clinical studies

Etiology

Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
De Vilder EYG, Hosen MJ, Martin L, De Zaeytijd J, Leroy BP, Ebran JM, Coucke PJ, De Paepe A, Vanakker OM
Clin Genet 2020 Jul;98(1):74-79. Epub 2020 May 10 doi: 10.1111/cge.13751. PMID: 32270475
The natural history of thalassemia intermedia.
Borgna-Pignatti C, Marsella M, Zanforlin N
Ann N Y Acad Sci 2010 Aug;1202:214-20. doi: 10.1111/j.1749-6632.2010.05550.x. PMID: 20712795
Parameters of oxidative stress are present in the circulation of PXE patients.
Garcia-Fernandez MI, Gheduzzi D, Boraldi F, Paolinelli CD, Sanchez P, Valdivielso P, Morilla MJ, Quaglino D, Guerra D, Casolari S, Bercovitch L, Pasquali-Ronchetti I
Biochim Biophys Acta 2008 Jul-Aug;1782(7-8):474-81. Epub 2008 May 10 doi: 10.1016/j.bbadis.2008.05.001. PMID: 18513494

Diagnosis

Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167
Parameters of oxidative stress are present in the circulation of PXE patients.
Garcia-Fernandez MI, Gheduzzi D, Boraldi F, Paolinelli CD, Sanchez P, Valdivielso P, Morilla MJ, Quaglino D, Guerra D, Casolari S, Bercovitch L, Pasquali-Ronchetti I
Biochim Biophys Acta 2008 Jul-Aug;1782(7-8):474-81. Epub 2008 May 10 doi: 10.1016/j.bbadis.2008.05.001. PMID: 18513494

Prognosis

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
De Vilder EYG, Hosen MJ, Martin L, De Zaeytijd J, Leroy BP, Ebran JM, Coucke PJ, De Paepe A, Vanakker OM
Clin Genet 2020 Jul;98(1):74-79. Epub 2020 May 10 doi: 10.1111/cge.13751. PMID: 32270475

Clinical prediction guides

Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167
Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).
LaRusso J, Li Q, Jiang Q, Uitto J
J Invest Dermatol 2009 Jun;129(6):1388-94. Epub 2009 Jan 1 doi: 10.1038/jid.2008.391. PMID: 19122649Free PMC Article
Parameters of oxidative stress are present in the circulation of PXE patients.
Garcia-Fernandez MI, Gheduzzi D, Boraldi F, Paolinelli CD, Sanchez P, Valdivielso P, Morilla MJ, Quaglino D, Guerra D, Casolari S, Bercovitch L, Pasquali-Ronchetti I
Biochim Biophys Acta 2008 Jul-Aug;1782(7-8):474-81. Epub 2008 May 10 doi: 10.1016/j.bbadis.2008.05.001. PMID: 18513494

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