脑膜瘤
Meningioma
ORPHA:2495疾病
注意：这个中文名不唯一。ORPHA:252025 在 Orphanet 中文包里用的是同一个中文名，但它们是不同的疾病实体——请对照英文名与 ORPHA 编号确认你要找的是哪一个。
定义 英文原文（暂无中文）
A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Germany）
相关基因 12
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Disease-causing somatic mutation(s) in |
| SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | Disease-causing germline mutation(s) in |
| SUFU | SUFU negative regulator of hedgehog signaling | Disease-causing germline mutation(s) in |
| NF2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Disease-causing somatic mutation(s) in |
| TERT | telomerase reverse transcriptase | Disease-causing somatic mutation(s) in |
| PDGFB | platelet derived growth factor subunit B | Disease-causing germline mutation(s) in |
| AKT1 | AKT serine/threonine kinase 1 | Disease-causing germline mutation(s) in |
| BAP1 | BRCA1 associated deubiquitinase 1 | Disease-causing germline mutation(s) in |
| BAP1 | BRCA1 associated deubiquitinase 1 | Disease-causing somatic mutation(s) in |
| SMARCE1 | SWI/SNF related BAF chromatin remodeling complex subunit E1 | Disease-causing germline mutation(s) (loss of function) in |
| SMO | smoothened, frizzled class receptor | Disease-causing somatic mutation(s) in |
| TRAF7 | TNF receptor associated factor 7 | Disease-causing somatic mutation(s) in |
临床表型 74
极常见 99–80%3
- 电离辐射诱发的染色体断裂 HP:0010997
- 电离辐射敏感性增强 HP:0011133
- 颅内脑膜瘤 HP:0100009
常见 79–30%19
- 脑FDG正电子发射断层扫描异常 HP:0012658
- 闭经 HP:0000141
- 双颞侧偏盲 HP:0030521
- 循环ACTH浓度降低 HP:0002920
- 血皮质醇水平降低 HP:0008163
- 循环卵泡刺激素浓度降低 HP:0030341
- 循环黄体生成素水平降低 HP:0030344
- 血清雌二醇水平降低 HP:0008214
- 血清睾酮水平降低 HP:0040171
- 丘脑局灶性T2低信号病变 HP:0012691
- 局灶性发作 HP:0007359
- 头痛 HP:0002315
- 低促性腺激素性性腺功能减退症 HP:0000044
- 阳痿 HP:0000802
- 泌乳素水平升高 HP:0000870
- 恶心和呕吐 HP:0002017
- 垂体性甲状腺功能减退症 HP:0008245
- 继发性生长激素缺乏症 HP:0008240
- 癫痫发作 HP:0001250
偶见 29–5%32
- 小脑形态异常 HP:0001317
- 下丘脑生理异常 HP:0012285
- 动态视野检查异常 HP:0030591
- 中枢性运动功能异常 HP:0011442
- 中枢感觉功能异常 HP:0011730
- 嗅觉异常 HP:0004408
- 共济失调 HP:0001251
- 认知功能损害 HP:0100543
- 颅神经麻痹 HP:0006824
- 垂体增大 HP:0012505
- 面部神经麻痹 HP:0010628
- 功能性运动障碍 HP:0004302
- 步态异常 HP:0001288
- 轻偏瘫 HP:0001269
- 脑积水 HP:0000238
- 下丘脑性甲状腺功能减退 HP:0008237
- 颅内压增高 HP:0002516
- 下肢肌肉无力 HP:0007340
- 记忆障碍 HP:0002354
- 垂体前叶肿瘤 HP:0011750
- 神经纤维瘤 HP:0001067
- 肥胖 HP:0001513
- 动眼神经麻痹 HP:0012246
- 眼肌麻痹 HP:0000602
- 视乳头水肿 HP:0001085
- 泌乳素水平下降 HP:0008202
- 视力缓慢下降 HP:0007924
- 脊膜瘤 HP:0100010
- 三叉神经痛 HP:0100661
- 上肢肌无力 HP:0003484
- 视力测试异常 HP:0030532
- 眼外肌薄弱 HP:0007715
罕见 <4–1%20
- 纵隔形态异常 HP:0045026
- 异常言语模式 HP:0002167
- 肺功能检测结果异常 HP:0030878
- 背部疼痛 HP:0003418
- 失明 HP:0000618
- 脑干受压 HP:0002512
- 脑出血 HP:0001342
- 耳痛 HP:0030766
- 情绪不稳 HP:0000712
- 日间睡眠增多 HP:0001262
- 偏侧面肌痉挛 HP:0010828
- 垂体后叶肿瘤 HP:0011752
- 皮肤肿瘤 HP:0008069
- 舌瘤 HP:0100648
- 进行性肺功能受损 HP:0006520
- 眼球突出 HP:0000520
- 晕厥 HP:0001279
- 耳鸣 HP:0000360
- 短暂性全面性遗忘症 HP:0010534
- 尿失禁 HP:0000020
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）