| H01806 | |
| H番号 | H01806 |
| 名称 | Tenorio 症候群 |
| 概要 | Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:H01502]. Mutations in RNF125, encoding an E3 ubiquitin ligase, have been found from patients. It have been demonstrated that mutations in RNF125 result in a loss of function of RNF125 and dysregulation of the RIG-I-IPS1, PI3K-AKT, and interferon pathways. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06519(H01806) RLR signaling |
| 病因遺伝子 | RNF125 [HSA:54941] [KO:K12170] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2C OMIM: 616260 |
| 文献 | PMID:25196541 著者 Tenorio J, Mansilla A, Valencia M, Martinez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillen-Navarro E, Gordo G, Mansilla E, Garcia-Santiago F, Gonzalez-Casado I, Vallespin E, Palomares M, Mori MA, Santos-Simarro F, Garcia-Minaur S, Fernandez L, Mena R, Benito-Sanz S, del Pozo A, Silla JC, Ibanez K, Lopez-Granados E, Martin-Trujillo A, Montaner D, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Perez VL, Lapunzina P タイトル A new overgrowth syndrome is due to mutations in RNF125. 雑誌 Hum Mutat 35:1436-41 (2014) DOI:10.1002/humu.22689 |