| H01919 | |
| H番号 | H01919 |
| 名称 | Proud 症候群 |
| 概要 | Proud syndrome is a syndromic X-linked mental retardation, characterized by agenesis of the corpus callosum, and abnormal genitalia. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Phenotypes associated with ARX mutations include both brain malformation and non-malformation syndromes. Premature termination mutations and missense mutations in the homeobox domain cause malformation syndromes such as Proud syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | ARX [HSA:170302] [KO:K09452] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00658 Syndromic X-linked mental retardation. |
| リンク | ICD-11: LD20.Y ICD-10: Q87.8 MeSH: C563110 OMIM: 300004 |
| 文献 | PMID:18823727 著者 Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y タイトル Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. 雑誌 Brain Dev 31:469-72 (2009) DOI:10.1016/j.braindev.2008.08.006 PMID:14722918 著者 Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB タイトル Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 雑誌 Hum Mutat 23:147-59 (2004) DOI:10.1002/humu.10310 |