能量代谢异常
Disorder of energy metabolism
ORPHA:79200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 |
|---|---|---|
| ABCC8 | ATP binding cassette subfamily C member 8 | ORPHA:552 |
| ACAD9 | acyl-CoA dehydrogenase family member 9 | ORPHA:99901 |
| ACADVL | acyl-CoA dehydrogenase very long chain | ORPHA:26793 |
| ACAT1 | acetyl-CoA acetyltransferase 1 | ORPHA:134 |
| ACO2 | aconitase 2 | ORPHA:313850 |
| AFG3L2 | AFG3 like matrix AAA peptidase subunit 2 | ORPHA:101109 |
| AGL | amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | ORPHA:366 |
| ALDOA | aldolase, fructose-bisphosphate A | ORPHA:57 |
| APPL1 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | ORPHA:552 |
| BLK | BLK proto-oncogene, Src family tyrosine kinase | ORPHA:552 |
| CEL | carboxyl ester lipase | ORPHA:552 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | ORPHA:457050 |
| 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 |
| COX15 | cytochrome c oxidase assembly factor COX15 | ORPHA:1561 |
| COX6A1 | cytochrome c oxidase subunit 6A1 | ORPHA:435998 |
| DARS2 | aspartyl-tRNA synthetase 2, mitochondrial | ORPHA:137898 |
| DLAT | dihydrolipoamide S-acetyltransferase | ORPHA:79244 |
| DLD | dihydrolipoamide dehydrogenase | ORPHA:2394 |
| DNAJC30 | DnaJ heat shock protein family (Hsp40) member C30 | ORPHA:104 |
| DNM1L | dynamin 1 like | ORPHA:98673 |
| ENO3 | enolase 3 | ORPHA:99849 |
| EPM2A | EPM2A glucan phosphatase, laforin | ORPHA:501 |
| 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 |
| G6PC1 | glucose-6-phosphatase catalytic subunit 1 | ORPHA:79258 |
| GAA | alpha glucosidase | ORPHA:308552 |
| GAMT | guanidinoacetate N-methyltransferase | ORPHA:382 |
| GATM | glycine amidinotransferase | ORPHA:35704 |
| GBE1 | 1,4-alpha-glucan branching enzyme 1 | ORPHA:206583 |
| GCK | glucokinase | ORPHA:79299 |
| GFER | growth factor, augmenter of liver regeneration | ORPHA:330054 |
| GLRX5 | glutaredoxin 5 | ORPHA:401866 |
| GPI | glucose-6-phosphate isomerase | ORPHA:712 |
| GYG1 | glycogenin 1 | ORPHA:263297 |
| GYS1 | glycogen synthase 1 | ORPHA:137625 |
| GYS2 | glycogen synthase 2 | ORPHA:2089 |
| HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | ORPHA:746 |
| HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | ORPHA:746 |
| HK1 | hexokinase 1 | ORPHA:90031 |
| HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | ORPHA:20 |
| HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ORPHA:35701 |
| HNF1A | HNF1 homeobox A | ORPHA:552 |
| HNF4A | hepatocyte nuclear factor 4 alpha | ORPHA:552 |
| HSD17B10 | hydroxysteroid 17-beta dehydrogenase 10 | ORPHA:391428 |
| IARS2 | isoleucyl-tRNA synthetase 2, mitochondrial | ORPHA:506 |
| INS | insulin | ORPHA:552 |
| KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | ORPHA:552 |
| KLF11 | KLF transcription factor 11 | ORPHA:552 |
| LAMP2 | lysosome associated membrane protein 2 | ORPHA:34587 |
| LDHA | lactate dehydrogenase A | ORPHA:284426 |
| LDHB | lactate dehydrogenase B | ORPHA:284435 |
| LIAS | lipoic acid synthetase | ORPHA:401859 |
| LIG3 | DNA ligase 3 | ORPHA:298 |
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）