儿童1型干扰素病
Type 1 interferonopathy of childhood
ORPHA:481671疾病组
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 |
|---|---|---|
| ACP5 | acid phosphatase 5, tartrate resistant | ORPHA:1855 |
| ADA2 | adenosine deaminase 2 | ORPHA:404553 |
| ADAR | adenosine deaminase RNA specific | ORPHA:51 |
| COPA | coat protein complex I subunit alpha | ORPHA:444092 |
| IFIH1 | interferon induced with helicase C domain 1 | ORPHA:85191 |
| LSM11 | LSM11, U7 small nuclear RNA associated | ORPHA:51 |
| POLA1 | DNA polymerase alpha 1, catalytic subunit | ORPHA:85453 |
| PSMB8 | proteasome 20S subunit beta 8 | ORPHA:324977 |
| RIGI | RNA sensor RIG-I | ORPHA:85191 |
| RNASEH2A | ribonuclease H2 subunit A | ORPHA:51 |
| RNASEH2B | ribonuclease H2 subunit B | ORPHA:51 |
| RNASEH2C | ribonuclease H2 subunit C | ORPHA:51 |
| RNU7-1 | RNA, U7 small nuclear 1 | ORPHA:51 |
| SAMHD1 | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | ORPHA:481662 |
| SKIC2 | SKI2 subunit of superkiller complex | ORPHA:84064 |
| SKIC3 | SKI3 subunit of superkiller complex | ORPHA:84064 |
| STING1 | stimulator of interferon response cGAMP interactor 1 | ORPHA:425120 |
| TREX1 | three prime repair exonuclease 1 | ORPHA:247691 |
| USP18 | ubiquitin specific peptidase 18 | ORPHA:481665 |
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）