| H00134 | |
| H番号 | H00134 |
| 名称 | X連鎖魚鱗癬 |
| 概要 | X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as attention deficit hyperactivity syndrome or autism. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | STS [HSA:412] [KO:K01131] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC20.01 ICD-10: Q80.1 MeSH: D016114 OMIM: 308100 |
| 文献 | PMID:15561802 著者 Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV タイトル Steroid sulfatase: molecular biology, regulation, and inhibition. 雑誌 Endocr Rev 26:171-202 (2005) DOI:10.1210/er.2004-0003 PMID:9252398 著者 Alperin ES, Shapiro LJ タイトル Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. 雑誌 J Biol Chem 272:20756-63 (1997) DOI:10.1074/jbc.272.33.20756 PMID:18413370 著者 Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, McMahon R, Yates JR タイトル X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. 雑誌 J Med Genet 45:519-24 (2008) DOI:10.1136/jmg.2008.057729 |