| H00769 | |
| H番号 | H00769 |
| 名称 | 過剰驚愕症; びっくり病 |
| 概要 | Hyperekplexia, also known as startle disease, is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterized by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis has revealed mutations in genes for several postsynaptic proteins involved in orchestrating glycinergic neurotransmission, including the glycine receptor (GlyR) alpha1 and beta subunits. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (HKPX1) GLRA1 [HSA:2741] [KO:K05193] (HKPX2) GLRB [HSA:2743] [KO:K05196] (HKPX3) SLC6A5 [HSA:9152] [KO:K05038] (HKPX4) ATAD1 [HSA:84896] [KO:K22530] |
| 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: G25.8 MeSH: D016750 OMIM: 149400 614619 614618 618011 |
| 文献 | PMID:18707791 著者 Harvey RJ, Topf M, Harvey K, Rees MI タイトル The genetics of hyperekplexia: more than startle! 雑誌 Trends Genet 24:439-47 (2008) DOI:10.1016/j.tig.2008.06.005 PMID:20407582 著者 Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI タイトル The glycinergic system in human startle disease: a genetic screening approach. 雑誌 Front Mol Neurosci 3:8 (2010) DOI:10.3389/fnmol.2010.00008 |