脑桥小脑发育不全1型
Pontocerebellar hypoplasia type 1
ORPHA:2254疾病亚型
定义 英文原文（暂无中文）
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing
别名
Norman 病
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| VRK1 | VRK serine/threonine kinase 1 | Disease-causing germline mutation(s) in |
| EXOSC3 | exosome component 3 | Disease-causing germline mutation(s) in |
| EXOSC8 | exosome component 8 | Disease-causing germline mutation(s) in |
| SLC25A46 | solute carrier family 25 member 46 | Disease-causing germline mutation(s) (loss of function) in |
| EXOSC9 | exosome component 9 | Disease-causing germline mutation(s) in |
| AGTPBP1 | ATP/GTP binding carboxypeptidase 1 | Disease-causing germline mutation(s) in |
临床表型 29
极常见 99–80%9
- 小脑发育缺陷/发育不全 HP:0007360
- 前角细胞变性 HP:0002398
- 全面发育迟缓 HP:0001263
- 腱反射减弱 HP:0001265
- 肌张力减退 HP:0001252
- 运动发育迟缓 HP:0001270
- 肌无力 HP:0001324
- 呼吸衰竭 HP:0002878
- 骨骼肌萎缩 HP:0003202
常见 79–30%7
- 发育迟滞 HP:0001508
- 喂养困难 HP:0011968
- 脑桥发育不良 HP:0012110
- 眼球震颤 HP:0000639
- 视神经萎缩 HP:0000648
- 渐进性小头畸形 HP:0000253
- 进行性视力下降 HP:0000529
偶见 29–5%10
- 小脑囊肿 HP:0002350
- 大脑皮层萎缩 HP:0002120
- 先天性喉喘鸣 HP:0004886
- 反射亢进 HP:0001347
- 轴索性周围神经病 HP:0003477
- 癫痫发作 HP:0001250
- 痉挛 HP:0001257
- 斜视 HP:0000486
- 薄胼胝体 HP:0033725
- 舌肌束震颤 HP:0001308
罕见 <4–1%3
- 先天性多发性关节挛缩 HP:0002804
- 共济失调 HP:0001251
- 内斜视 HP:0000565
外部标识与链接
OrphanetOMIM:607596OMIM:614678OMIM:616081MONDO:0016396GARD:10704ICD-10 Q04.3ICD-11 LD20.01ClinicalTrials.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）