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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
AIFM1apoptosis inducing factor mitochondria associated 1ORPHA:139583
ATL1atlastin GTPase 1ORPHA:36386
ATL3atlastin GTPase 3ORPHA:36386
CLCF1cardiotrophin like cytokine factor 1ORPHA:157820
CLTCL1clathrin heavy chain like 1ORPHA:453510
CRLF1cytokine receptor like factor 1ORPHA:157820
DNMT1DNA methyltransferase 1ORPHA:456318
DSTdystoninORPHA:314381
KIF1Akinesin family member 1AORPHA:970
KLHL7kelch like family member 7ORPHA:157820
NGFnerve growth factorORPHA:64752
NTRK1neurotrophic receptor tyrosine kinase 1ORPHA:642
PRDM12PR/SET domain 12ORPHA:478664
RETREG1reticulophagy regulator 1ORPHA:970
RFC1replication factor C subunit 1ORPHA:504476
SCN11Asodium voltage-gated channel alpha subunit 11ORPHA:391397
SCN9Asodium voltage-gated channel alpha subunit 9ORPHA:970
SPTLC1serine palmitoyltransferase long chain base subunit 1ORPHA:36386
SPTLC2serine palmitoyltransferase long chain base subunit 2ORPHA:36386
WNK1WNK lysine deficient protein kinase 1ORPHA:970
ZFHX2zinc finger homeobox 2ORPHA: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)