进行性肌阵挛性癫痫
Progressive myoclonic epilepsy
ORPHA:98261疾病组
别名
进行性肌阵挛癫痫
基本事实
- 发病年龄
- 青少年期、儿童期、婴儿期、新生儿期
相关基因 19来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| CERS1 | ceramide synthase 1 | ORPHA:424027 |
| CLN8 | CLN8 transmembrane ER and ERGIC protein | ORPHA:1947 |
| CSTB | cystatin B | ORPHA:308 |
| EPM2A | EPM2A glucan phosphatase, laforin | ORPHA:501 |
| GOSR2 | golgi SNAP receptor complex member 2 | ORPHA:280620 |
| KCNC1 | potassium voltage-gated channel subfamily C member 1 | ORPHA:435438 |
| KCTD7 | potassium channel tetramerization domain containing 7 | ORPHA:263516 |
| LMNB2 | lamin B2 | ORPHA:457265 |
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | ORPHA:551 |
| MT-TF | mitochondrially encoded tRNA-Phe (UUU/C) | ORPHA:551 |
| MT-TH | mitochondrially encoded tRNA-His (CAU/C) | ORPHA:551 |
| MT-TK | mitochondrially encoded tRNA-Lys (AAA/G) | ORPHA:551 |
| MT-TL1 | mitochondrially encoded tRNA-Leu (UUA/G) 1 | ORPHA:551 |
| MT-TP | mitochondrially encoded tRNA-Pro (CCN) | ORPHA:551 |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | ORPHA:551 |
| NHLRC1 | NHL repeat containing E3 ubiquitin protein ligase 1 | ORPHA:501 |
| PRDM8 | PR/SET domain 8 | ORPHA:324290 |
| PRICKLE1 | prickle planar cell polarity protein 1 | ORPHA:308 |
| SCARB2 | scavenger receptor class B member 2 | ORPHA:308 |
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）