| H00560 | |
| H番号 | H00560 |
| 名称 | 弾性線維性仮性黄色腫 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC40 ICD-10: Q82.8 MeSH: D011561 OMIM: 264800 177850 610842 |
| 文献 | PMID:19054062 著者 Li Q, Jiang Q, Pfendner E, Varadi A, Uitto J タイトル Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. 雑誌 Exp Dermatol 18:1-11 (2009) DOI:10.1111/j.1600-0625.2008.00795.x PMID:16604369 (ABCC6) 著者 Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG タイトル ABCC6 and pseudoxanthoma elasticum. 雑誌 Pflugers Arch 453:685-91 (2007) DOI:10.1007/s00424-005-0039-0 PMID:16571645 (XYLT1, XYLT2) 著者 Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C タイトル 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. 雑誌 J Med Genet 43:745-9 (2006) DOI:10.1136/jmg.2006.040972 PMID:19116367 (GGCX) 著者 Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW タイトル Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. 雑誌 Am J Pathol 174:534-40 (2009) DOI:10.2353/ajpath.2009.080865 PMID:11756149 著者 Aessopos A, Farmakis D, Loukopoulos D タイトル Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. 雑誌 Blood 99:30-5 (2002) DOI:10.1182/blood.V99.1.30 |