| H00560 | |
| H number | H00560 |
| Name | Pseudoxanthoma elasticum |
| Description | Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been reported. |
| Category | Congenital malformation |
| Network | - |
| Gene | (PXE) ABCC6 [HSA:368] [KO:K05669] (PXE) XYLT1 [HSA:64131] [KO:K00771] (PXE) XYLT2 [HSA:64132] [KO:K00771] (PXE-like) GGCX [HSA:2677] [KO:K10106] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC40 ICD-10: Q82.8 MeSH: D011561 OMIM: 264800 177850 610842 |
| Reference | PMID:19054062 AUTHORS Li Q, Jiang Q, Pfendner E, Varadi A, Uitto J TITLE Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. JOURNAL Exp Dermatol 18:1-11 (2009) DOI:10.1111/j.1600-0625.2008.00795.x PMID:16604369 (ABCC6) AUTHORS Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG TITLE ABCC6 and pseudoxanthoma elasticum. JOURNAL Pflugers Arch 453:685-91 (2007) DOI:10.1007/s00424-005-0039-0 PMID:16571645 (XYLT1, XYLT2) AUTHORS Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C TITLE Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. JOURNAL J Med Genet 43:745-9 (2006) DOI:10.1136/jmg.2006.040972 PMID:19116367 (GGCX) AUTHORS Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW TITLE Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. JOURNAL Am J Pathol 174:534-40 (2009) DOI:10.2353/ajpath.2009.080865 PMID:11756149 AUTHORS Aessopos A, Farmakis D, Loukopoulos D TITLE Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. JOURNAL Blood 99:30-5 (2002) DOI:10.1182/blood.V99.1.30 |