单纯疱疹病毒性脑炎
Herpes simplex virus encephalitis
ORPHA:1930疾病
定义 英文原文（暂无中文）
A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.
别名
单纯疱疹病毒性脑膜脑炎
基本事实
- 遗传方式
- 多基因/多因素、不适用
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| UNC93B1 | unc-93B1 regulator of TLR signaling | Major susceptibility factor in |
| TLR3 | toll like receptor 3 | Major susceptibility factor in |
| TICAM1 | TIR domain containing adaptor molecule 1 | Major susceptibility factor in |
| TRAF3 | TNF receptor associated factor 3 | Major susceptibility factor in |
| TBK1 | TANK binding kinase 1 | Major susceptibility factor in |
临床表型 30
极常见 99–80%4
- 脑形态学异常 HP:0012443
- 脑脊液淋巴细胞增生症 HP:0200149
- 脑电图异常 HP:0002353
- 意识下降 HP:0004372
常见 79–30%13
- 异常言语模式 HP:0002167
- 疲乏 HP:0012378
- 发热 HP:0001945
- 头痛 HP:0002315
- 低钠血症 HP:0002902
- 脑脊液蛋白浓度增加 HP:0002922
- 白细胞增多症 HP:0001974
- 意识丧失 HP:0007185
- 恶心和呕吐 HP:0002017
- 中性粒细胞增多症 HP:0011897
- 颈部僵硬 HP:0031179
- 呼吸衰竭，需要辅助通气 HP:0004887
- 癫痫发作 HP:0001250
偶见 29–5%13
- 酗酒 HP:0030955
- 脑水肿 HP:0002181
- 寒栗 HP:0025143
- 昏迷 HP:0001259
- C-反应蛋白水平升高 HP:0011227
- 日间睡眠增多 HP:0001262
- 知觉保留的局灶性发作 HP:0002349
- 知觉受损的局灶性发作 HP:0002384
- 功能性运动障碍 HP:0004302
- 反射亢进 HP:0001347
- 脑脊液糖减低 HP:0011972
- 免疫缺陷 HP:0002721
- 癫痫持续状态 HP:0002133
外部标识与链接
OrphanetOMIM:610551OMIM:613002OMIM:614849MONDO:0012521MONDO:12521GARD:6649ICD-10 B00.4+、G05.1*ICD-11 1F00.21ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）