| H01916 | |
| H番号 | H01916 |
| 名称 | Stocco dos Santos X連鎖性精神遅滞症候群 |
| 概要 | Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with hyperactivity and seizures. Clinical features include congenital bilateral hip luxation, short stature, and kyphosis. Mutations in the SHROOM4 gene, implicated in neural development, cause this disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | SHROOM4 [HSA:57477] [KO:K18625] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD90.Y ICD-10: Q87.8 MeSH: C537495 OMIM: 300434 |
| 文献 | PMID:12673656 著者 Stocco dos Santos RC, Castro NH, Lillia Holmes A, Becak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE タイトル Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. 雑誌 Am J Med Genet A 118A:255-9 (2003) DOI:10.1002/ajmg.a.20021 PMID:16249884 著者 Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A タイトル Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. 雑誌 Hum Genet 118:578-90 (2006) DOI:10.1007/s00439-005-0072-2 PMID:17009331 著者 Yoder M, Hildebrand JD タイトル Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization. 雑誌 Cell Motil Cytoskeleton 64:49-63 (2007) DOI:10.1002/cm.20167 |