遗传性感觉和自主神经病变
Hereditary sensory and autonomic neuropathy
ORPHA:140471疾病组
别名
HSAN
相关基因 21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 |
|---|---|---|
| AIFM1 | apoptosis inducing factor mitochondria associated 1 | ORPHA:139583 |
| ATL1 | atlastin GTPase 1 | ORPHA:36386 |
| ATL3 | atlastin GTPase 3 | ORPHA:36386 |
| CLCF1 | cardiotrophin like cytokine factor 1 | ORPHA:157820 |
| CLTCL1 | clathrin heavy chain like 1 | ORPHA:453510 |
| CRLF1 | cytokine receptor like factor 1 | ORPHA:157820 |
| DNMT1 | DNA methyltransferase 1 | ORPHA:456318 |
| DST | dystonin | ORPHA:314381 |
| KIF1A | kinesin family member 1A | ORPHA:970 |
| KLHL7 | kelch like family member 7 | ORPHA:157820 |
| NGF | nerve growth factor | ORPHA:64752 |
| NTRK1 | neurotrophic receptor tyrosine kinase 1 | ORPHA:642 |
| PRDM12 | PR/SET domain 12 | ORPHA:478664 |
| RETREG1 | reticulophagy regulator 1 | ORPHA:970 |
| RFC1 | replication factor C subunit 1 | ORPHA:504476 |
| SCN11A | sodium voltage-gated channel alpha subunit 11 | ORPHA:391397 |
| SCN9A | sodium voltage-gated channel alpha subunit 9 | ORPHA:970 |
| SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | ORPHA:36386 |
| SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | ORPHA:36386 |
| WNK1 | WNK lysine deficient protein kinase 1 | ORPHA:970 |
| ZFHX2 | zinc finger homeobox 2 | ORPHA:653728 |
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)