自身炎症综合征
Autoinflammatory syndrome
ORPHA:93665疾病组
相关基因 44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 |
| ADAM17 | ADAM metallopeptidase domain 17 | ORPHA:294023 |
| ADAR | adenosine deaminase RNA specific | ORPHA:41 |
| CDC42 | cell division cycle 42 | ORPHA:619363 |
| CEBPE | CCAAT enhancer binding protein epsilon | ORPHA:566067 |
| COPA | coat protein complex I subunit alpha | ORPHA:444092 |
| DOCK11 | dedicator of cytokinesis 11 | ORPHA:658946 |
| ELF4 | E74 like ETS transcription factor 4 | ORPHA:676125 |
| F12 | coagulation factor XII | ORPHA:617919 |
| IFIH1 | interferon induced with helicase C domain 1 | ORPHA:85191 |
| IL1RN | interleukin 1 receptor antagonist | ORPHA:210115 |
| IL36RN | interleukin 36 receptor antagonist | ORPHA:404546 |
| LACC1 | laccase domain containing 1 | ORPHA:85414 |
| LPIN2 | lipin 2 | ORPHA:77297 |
| LSM11 | LSM11, U7 small nuclear RNA associated | ORPHA:51 |
| MEFV | MEFV innate immunity regulator, pyrin | ORPHA:342 |
| NCSTN | nicastrin | ORPHA:289478 |
| NLRC4 | NLR family CARD domain containing 4 | ORPHA:436166 |
| NOD2 | nucleotide binding oligomerization domain containing 2 | ORPHA:90340 |
| OTULIN | OTU deubiquitinase with linear linkage specificity | ORPHA:500062 |
| PLCG2 | phospholipase C gamma 2 | ORPHA:324530 |
| POLA1 | DNA polymerase alpha 1, catalytic subunit | ORPHA:85453 |
| PSMB8 | proteasome 20S subunit beta 8 | ORPHA:324977 |
| PSTPIP1 | proline-serine-threonine phosphatase interacting protein 1 | ORPHA:69126 |
| PTPN6 | protein tyrosine phosphatase non-receptor type 6 | ORPHA:538863 |
| RBCK1 | RANBP2-type and C3HC4-type zinc finger containing 1 | ORPHA:329173 |
| 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 |
| RNF31 | ring finger protein 31 | ORPHA:329173 |
| RNU7-1 | RNA, U7 small nuclear 1 | ORPHA:51 |
| SAMD9L | sterile alpha motif domain containing 9 like | ORPHA:619367 |
| SAMHD1 | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | ORPHA:481662 |
| SH3BP2 | SH3 domain binding protein 2 | ORPHA:184 |
| 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 |
| TNFAIP3 | TNF alpha induced protein 3 | ORPHA:674762 |
| TNFRSF1A | TNF receptor superfamily member 1A | ORPHA:32960 |
| TREX1 | three prime repair exonuclease 1 | ORPHA:247691 |
| UBA1 | ubiquitin like modifier activating enzyme 1 | ORPHA:596753 |
| USP18 | ubiquitin specific peptidase 18 | ORPHA:481665 |
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）