代谢性发育异常
Developmental anomaly of metabolic origin
ORPHA:139009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 |
|---|---|---|
| AFG3L2 | AFG3 like matrix AAA peptidase subunit 2 | ORPHA:101109 |
| AGA | aspartylglucosaminidase | ORPHA:93 |
| AGTPBP1 | ATP/GTP binding carboxypeptidase 1 | ORPHA:2254 |
| ALDH18A1 | aldehyde dehydrogenase 18 family member A1 | ORPHA:35664 |
| ALPL | alkaline phosphatase, biomineralization associated | ORPHA:247685 |
| ARSB | arylsulfatase B | ORPHA:276212 |
| ARSK | arylsulfatase family member K | ORPHA:662216 |
| ARSL | arylsulfatase L | ORPHA:79345 |
| ATIC | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | ORPHA:250977 |
| ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | ORPHA:2834 |
| ATP7A | ATPase copper transporting alpha | ORPHA:198 |
| B3GALT6 | beta-1,3-galactosyltransferase 6 | ORPHA:536467 |
| B3GAT3 | beta-1,3-glucuronyltransferase 3 | ORPHA:284139 |
| B3GLCT | beta 3-glucosyltransferase | ORPHA:709 |
| B4GALT1 | beta-1,4-galactosyltransferase 1 | ORPHA:79332 |
| B4GALT7 | beta-1,4-galactosyltransferase 7 | ORPHA:75496 |
| BRCA1 | BRCA1 DNA repair associated | ORPHA:84 |
| BRCA2 | BRCA2 DNA repair associated | ORPHA:84 |
| BRIP1 | BRCA1 interacting DNA helicase 1 | ORPHA:84 |
| CBS | cystathionine beta-synthase | ORPHA:394 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | ORPHA:457050 |
| CHST14 | carbohydrate sulfotransferase 14 | ORPHA:2953 |
| CHSY1 | chondroitin sulfate synthase 1 | ORPHA:363417 |
| 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 |
| COG1 | component of oligomeric golgi complex 1 | ORPHA:263508 |
| COG7 | component of oligomeric golgi complex 7 | ORPHA:79333 |
| COX15 | cytochrome c oxidase assembly factor COX15 | ORPHA:1561 |
| COX6A1 | cytochrome c oxidase subunit 6A1 | ORPHA:435998 |
| CTSA | cathepsin A | ORPHA:351 |
| DARS2 | aspartyl-tRNA synthetase 2, mitochondrial | ORPHA:137898 |
| DHCR24 | 24-dehydrocholesterol reductase | ORPHA:35107 |
| DHCR7 | 7-dehydrocholesterol reductase | ORPHA:818 |
| 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 |
| DSE | dermatan sulfate epimerase | ORPHA:2953 |
| EBP | EBP cholestenol delta-isomerase | ORPHA:401973 |
| ERCC1 | ERCC excision repair 1, endonuclease non-catalytic subunit | ORPHA:90322 |
| ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | ORPHA:84 |
| ERCC6 | ERCC excision repair 6, chromatin remodeling factor | ORPHA:90324 |
| ERCC8 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | ORPHA:90324 |
| ETFA | electron transfer flavoprotein subunit alpha | ORPHA:394529 |
| ETFB | electron transfer flavoprotein subunit beta | ORPHA:394529 |
| ETFDH | electron transfer flavoprotein dehydrogenase | ORPHA:394529 |
| EXOSC3 | exosome component 3 | ORPHA:2254 |
| EXOSC8 | exosome component 8 | ORPHA:2254 |
| EXOSC9 | exosome component 9 | ORPHA:2254 |
| FAAP100 | FA core complex associated protein 100 | ORPHA:84 |
| FANCA | FA complementation group A | ORPHA:84 |
| FANCB | FA complementation group B | ORPHA:84 |
| FANCC | FA complementation group C | ORPHA:84 |
| FANCD2 | FA complementation group D2 | ORPHA:84 |
| FANCE | FA complementation group E | ORPHA:84 |
| FANCF | FA complementation group F | ORPHA:84 |
| FANCG | FA complementation group G | ORPHA:84 |
| FANCI | FA complementation group I | ORPHA:84 |
| FANCL | FA complementation group L | ORPHA:84 |
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）