罕见病知识库 RareSeen

过氧化物酶体病

Peroxisomal disease

ORPHA:68373疾病组

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
ACOX1acyl-CoA oxidase 1ORPHA:2971
CATcatalaseORPHA:926
DNM1Ldynamin 1 likeORPHA:330050
EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenaseORPHA:300
HSD17B4hydroxysteroid 17-beta dehydrogenase 4ORPHA:300
MFFmitochondrial fission factorORPHA:485421
PEX1peroxisomal biogenesis factor 1ORPHA:912
PEX10peroxisomal biogenesis factor 10ORPHA:912
PEX11Bperoxisomal biogenesis factor 11 betaORPHA:912
PEX12peroxisomal biogenesis factor 12ORPHA:912
PEX13peroxisomal biogenesis factor 13ORPHA:912
PEX14peroxisomal biogenesis factor 14ORPHA:912
PEX16peroxisomal biogenesis factor 16ORPHA:912
PEX19peroxisomal biogenesis factor 19ORPHA:912
PEX2peroxisomal biogenesis factor 2ORPHA:912
PEX26peroxisomal biogenesis factor 26ORPHA:912
PEX3peroxisomal biogenesis factor 3ORPHA:912
PEX5peroxisomal biogenesis factor 5ORPHA:912
PEX6peroxisomal biogenesis factor 6ORPHA:912
SCP2sterol carrier protein 2ORPHA:163684
TRIM37tripartite motif containing 37ORPHA:2576

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)