阵发性剧痛症
Paroxysmal extreme pain disorder
ORPHA:46348疾病
定义 英文原文（暂无中文）
A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.
别名
家族性直肠痛
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SCN9A | sodium voltage-gated channel alpha subunit 9 | Disease-causing germline mutation(s) (gain of function) in |
| SCN10A | sodium voltage-gated channel alpha subunit 10 | Candidate gene tested in |
| SCN11A | sodium voltage-gated channel alpha subunit 11 | Candidate gene tested in |
临床表型 2
极常见 99–80%1
- 癫痫发作 HP:0001250
常见 79–30%1
- 便秘 HP:0002019
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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）