Infantile epileptic spasms syndrome
ORPHA:697160疾病暂无中文名
别名
IESS
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁显性
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 100 000
相关基因 13
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) in |
| CDKL5 | cyclin dependent kinase like 5 | Disease-causing germline mutation(s) in |
| ARX | aristaless related homeobox | Disease-causing germline mutation(s) in |
| PIGA | phosphatidylinositol glycan anchor biosynthesis class A | Disease-causing germline mutation(s) in |
| SPTAN1 | spectrin alpha, non-erythrocytic 1 | Disease-causing germline mutation(s) in |
| PLCB1 | phospholipase C beta 1 | Disease-causing germline mutation(s) in |
| GRIN2B | glutamate ionotropic receptor NMDA type subunit 2B | Disease-causing germline mutation(s) (gain of function) in |
| WDR45 | WD repeat domain 45 | Disease-causing germline mutation(s) in |
| NTRK2 | neurotrophic receptor tyrosine kinase 2 | Disease-causing germline mutation(s) in |
| SIK1 | salt inducible kinase 1 | Disease-causing germline mutation(s) in |
| GUF1 | GTP binding elongation factor GUF1 | Disease-causing germline mutation(s) in |
| CNPY3 | canopy FGF signaling regulator 3 | Disease-causing germline mutation(s) in |
| PHACTR1 | phosphatase and actin regulator 1 | Disease-causing germline mutation(s) in |
临床表型 6
极常见 99–80%4
- 发育倒退 HP:0002376
- 高度失律 HP:0002521
- 婴儿痉挛 HP:0012469
- 肌阵挛 HP:0001336
常见 79–30%2
- 皮肤形态异常 HP:0011121
- 神经系统异常 HP:0000707
外部标识与链接
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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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）