鱼鳞病
Ichthyosis
ORPHA:79354疾病组
相关基因 20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 |
|---|---|---|
| ABCA12 | ATP binding cassette subfamily A member 12 | ORPHA:79394 |
| ALOX12B | arachidonate 12-lipoxygenase, 12R type | ORPHA:281122 |
| ALOXE3 | arachidonate epidermal lipoxygenase 3 | ORPHA:281122 |
| CERS3 | ceramide synthase 3 | ORPHA:79394 |
| CLDN1 | claudin 1 | ORPHA:59303 |
| CSTA | cystatin A | ORPHA:289586 |
| KRT1 | keratin 1 | ORPHA:79503 |
| KRT10 | keratin 10 | ORPHA:281190 |
| KRT2 | keratin 2 | ORPHA:455 |
| MBTPS2 | membrane bound transcription factor peptidase, site 2 | ORPHA:2273 |
| NIPAL4 | NIPA like domain containing 4 | ORPHA:79394 |
| PNPLA1 | patatin like domain 1, omega-hydroxyceramide transacylase | ORPHA:79394 |
| SDR9C7 | short chain dehydrogenase/reductase family 9C member 7 | ORPHA:79394 |
| SERPINB8 | serpin family B member 8 | ORPHA:289586 |
| SPINK5 | serine peptidase inhibitor Kazal type 5 | ORPHA:634 |
| ST14 | ST14 transmembrane serine protease matriptase | ORPHA:91132 |
| STS | steroid sulfatase | ORPHA:461 |
| SULT2B1 | sulfotransferase family 2B member 1 | ORPHA:79394 |
| TGM1 | transglutaminase 1 | ORPHA:100976 |
| TGM5 | transglutaminase 5 | ORPHA:263534 |
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)