脑白质营养不良
Leukodystrophy
ORPHA:68356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:313808 |
| ABCD1 | ATP binding cassette subfamily D member 1 | ORPHA:139396 |
| ACER3 | alkaline ceramidase 3 | ORPHA:502444 |
| ADAR | adenosine deaminase RNA specific | ORPHA:51 |
| AIMP1 | aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | ORPHA:280293 |
| ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | ORPHA:816 |
| AQP4 | aquaporin 4 | ORPHA:2478 |
| ARSA | arylsulfatase A | ORPHA:309263 |
| ASPA | aspartoacylase | ORPHA:314911 |
| CLCN2 | chloride voltage-gated channel 2 | ORPHA:363540 |
| COA8 | cytochrome c oxidase assembly factor 8 | ORPHA:436271 |
| CSF1R | colony stimulating factor 1 receptor | ORPHA:556985 |
| CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | ORPHA:909 |
| DARS1 | aspartyl-tRNA synthetase 1 | ORPHA:363412 |
| DARS2 | aspartyl-tRNA synthetase 2, mitochondrial | ORPHA:137898 |
| EARS2 | glutamyl-tRNA synthetase 2, mitochondrial | ORPHA:314051 |
| EIF2B1 | eukaryotic translation initiation factor 2B subunit alpha | ORPHA:157713 |
| EIF2B2 | eukaryotic translation initiation factor 2B subunit beta | ORPHA:157713 |
| EIF2B3 | eukaryotic translation initiation factor 2B subunit gamma | ORPHA:157713 |
| EIF2B4 | eukaryotic translation initiation factor 2B subunit delta | ORPHA:157713 |
| EIF2B5 | eukaryotic translation initiation factor 2B subunit epsilon | ORPHA:157713 |
| GALC | galactosylceramidase | ORPHA:206436 |
| GFAP | glial fibrillary acidic protein | ORPHA:363717 |
| GJC2 | gap junction protein gamma 2 | ORPHA:280282 |
| GPRC5B | G protein-coupled receptor class C group 5 member B | ORPHA:2478 |
| HEPACAM | hepatic and glial cell adhesion molecule | ORPHA:2478 |
| HIKESHI | heat shock protein nuclear import factor hikeshi | ORPHA:495844 |
| HSPD1 | heat shock protein family D (Hsp60) member 1 | ORPHA:280288 |
| HYCC1 | hyccin PI4KA lipid kinase complex subunit 1 | ORPHA:85163 |
| IFIH1 | interferon induced with helicase C domain 1 | ORPHA:51 |
| ISCA2 | iron-sulfur cluster assembly 2 | ORPHA:457406 |
| KARS1 | lysyl-tRNA synthetase 1 | ORPHA:652532 |
| LAMB1 | laminin subunit beta 1 | ORPHA:662229 |
| LMNB1 | lamin B1 | ORPHA:99027 |
| LSM11 | LSM11, U7 small nuclear RNA associated | ORPHA:51 |
| MAL | mal, T cell differentiation protein (MAL blood group) | ORPHA:280270 |
| MLC1 | modulator of VRAC current 1 | ORPHA:2478 |
| MTHFS | methenyltetrahydrofolate synthetase | ORPHA:597874 |
| NADK2 | NAD kinase 2, mitochondrial | ORPHA:431361 |
| NDUFA2 | NADH:ubiquinone oxidoreductase subunit A2 | ORPHA:85136 |
| NDUFV2 | NADH:ubiquinone oxidoreductase core subunit V2 | ORPHA:139447 |
| NKX6-2 | NK6 homeobox 2 | ORPHA:527497 |
| PEX1 | peroxisomal biogenesis factor 1 | ORPHA:912 |
| PEX10 | peroxisomal biogenesis factor 10 | ORPHA:912 |
| PEX11B | peroxisomal biogenesis factor 11 beta | ORPHA:912 |
| PEX12 | peroxisomal biogenesis factor 12 | ORPHA:912 |
| PEX13 | peroxisomal biogenesis factor 13 | ORPHA:912 |
| PEX14 | peroxisomal biogenesis factor 14 | ORPHA:912 |
| PEX16 | peroxisomal biogenesis factor 16 | ORPHA:912 |
| PEX19 | peroxisomal biogenesis factor 19 | ORPHA:912 |
| PEX2 | peroxisomal biogenesis factor 2 | ORPHA:912 |
| PEX26 | peroxisomal biogenesis factor 26 | ORPHA:912 |
| PEX3 | peroxisomal biogenesis factor 3 | ORPHA:912 |
| PEX5 | peroxisomal biogenesis factor 5 | ORPHA:912 |
| PEX6 | peroxisomal biogenesis factor 6 | ORPHA:912 |
| PLP1 | proteolipid protein 1 | ORPHA:99015 |
| POLR3A | RNA polymerase III subunit A | ORPHA:137639 |
| PSAP | prosaposin | ORPHA:206436 |
| RARS1 | arginyl-tRNA synthetase 1 | ORPHA:438114 |
| RNASEH2A | ribonuclease H2 subunit A | ORPHA:51 |
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）