线粒体疾病
Mitochondrial disease
ORPHA:68380疾病组
相关基因 60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 |
|---|---|---|
| AARS2 | alanyl-tRNA synthetase 2, mitochondrial | ORPHA:319504 |
| AFG3L2 | AFG3 like matrix AAA peptidase subunit 2 | ORPHA:101109 |
| AGK | acylglycerol kinase | ORPHA:1369 |
| AIFM1 | apoptosis inducing factor mitochondria associated 1 | ORPHA:238329 |
| ATP5F1A | ATP synthase F1 subunit alpha | ORPHA:254913 |
| ATP5F1D | ATP synthase F1 subunit delta | ORPHA:254913 |
| ATP5F1E | ATP synthase F1 subunit epsilon | ORPHA:254913 |
| ATP5MK | ATP synthase membrane subunit k | ORPHA:254913 |
| ATP5PO | ATP synthase peripheral stalk subunit OSCP | ORPHA:254913 |
| ATPAF2 | ATP synthase mitochondrial F1 complex assembly factor 2 | ORPHA:254913 |
| BCS1L | BCS1 ubiquinol-cytochrome c reductase complex chaperone | ORPHA:1460 |
| BOLA3 | bolA family member 3 | ORPHA:401874 |
| CARS2 | cysteinyl-tRNA synthetase 2, mitochondrial | ORPHA:477774 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | ORPHA:457050 |
| CLPP | caseinolytic mitochondrial matrix peptidase proteolytic subunit | ORPHA:642945 |
| COA5 | cytochrome c oxidase assembly factor 5 | ORPHA:1561 |
| COA6 | cytochrome c oxidase assembly factor 6 | ORPHA:1561 |
| COA8 | cytochrome c oxidase assembly factor 8 | ORPHA:436271 |
| COQ4 | coenzyme Q4 | ORPHA:457185 |
| COQ6 | coenzyme Q6, monooxygenase | ORPHA:280406 |
| COQ7 | coenzyme Q7, hydroxylase | ORPHA:319678 |
| COQ8A | coenzyme Q8A | ORPHA:139485 |
| COQ9 | coenzyme Q9 | ORPHA:319678 |
| COX15 | cytochrome c oxidase assembly factor COX15 | ORPHA:1561 |
| COX6A1 | cytochrome c oxidase subunit 6A1 | ORPHA:435998 |
| CYC1 | cytochrome c1 | ORPHA:1460 |
| DAP3 | death associated protein 3 | ORPHA:642945 |
| DARS2 | aspartyl-tRNA synthetase 2, mitochondrial | ORPHA:137898 |
| DLAT | dihydrolipoamide S-acetyltransferase | ORPHA:79244 |
| DLD | dihydrolipoamide dehydrogenase | ORPHA:2394 |
| DNA2 | DNA replication helicase/nuclease 2 | ORPHA:352470 |
| DNAJC30 | DnaJ heat shock protein family (Hsp40) member C30 | ORPHA:104 |
| DNM1L | dynamin 1 like | ORPHA:98673 |
| EARS2 | glutamyl-tRNA synthetase 2, mitochondrial | ORPHA:314051 |
| ELAC2 | elaC ribonuclease Z 2 | ORPHA:369913 |
| ERAL1 | Era like 12S mitochondrial rRNA chaperone 1 | ORPHA:642945 |
| ETFA | electron transfer flavoprotein subunit alpha | ORPHA:394529 |
| ETFB | electron transfer flavoprotein subunit beta | ORPHA:394529 |
| ETFDH | electron transfer flavoprotein dehydrogenase | ORPHA:394529 |
| FARS2 | phenylalanyl-tRNA synthetase 2, mitochondrial | ORPHA:466722 |
| FASTKD2 | FAST kinase domains 2 | ORPHA:166105 |
| FH | fumarate hydratase | ORPHA:24 |
| FLAD1 | flavin adenine dinucleotide synthetase 1 | ORPHA:394529 |
| FOXRED1 | FAD dependent oxidoreductase domain containing 1 | ORPHA:2609 |
| GFER | growth factor, augmenter of liver regeneration | ORPHA:330054 |
| GFM1 | G elongation factor mitochondrial 1 | ORPHA:137681 |
| GFM2 | GTP dependent ribosome recycling factor mitochondrial 2 | ORPHA:565624 |
| GGPS1 | geranylgeranyl diphosphate synthase 1 | ORPHA:642945 |
| GLRX5 | glutaredoxin 5 | ORPHA:401866 |
| GTPBP3 | GTP binding protein 3, mitochondrial | ORPHA:444013 |
| HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | ORPHA:746 |
| HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | ORPHA:746 |
| HARS2 | histidyl-tRNA synthetase 2, mitochondrial | ORPHA:642945 |
| HSD17B10 | hydroxysteroid 17-beta dehydrogenase 10 | ORPHA:391428 |
| HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | ORPHA:642945 |
| IARS2 | isoleucyl-tRNA synthetase 2, mitochondrial | ORPHA:506 |
| IBA57 | iron-sulfur cluster assembly factor IBA57 | ORPHA:363424 |
| ISCA1 | iron-sulfur cluster assembly 1 | ORPHA:569274 |
| ISCA2 | iron-sulfur cluster assembly 2 | ORPHA:457406 |
| LARS2 | leucyl-tRNA synthetase 2, mitochondrial | ORPHA:642945 |
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）