氨基酸及其他有机酸代谢紊乱
Disorder of amino acid and other organic acid metabolism
ORPHA:79062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 |
|---|---|---|
| AARS1 | alanyl-tRNA synthetase 1 | ORPHA:442835 |
| AASS | aminoadipate-semialdehyde synthase | ORPHA:2203 |
| ABAT | 4-aminobutyrate aminotransferase | ORPHA:2066 |
| ACTL6B | actin like 6B | ORPHA:442835 |
| ACY1 | aminoacylase 1 | ORPHA:137754 |
| ADSL | adenylosuccinate lyase | ORPHA:46 |
| AHCY | adenosylhomocysteinase | ORPHA:88618 |
| ALDH5A1 | aldehyde dehydrogenase 5 family member A1 | ORPHA:22 |
| ALDH6A1 | aldehyde dehydrogenase 6 family member A1 | ORPHA:289307 |
| AMT | aminomethyltransferase | ORPHA:289863 |
| AP3B2 | adaptor related protein complex 3 subunit beta 2 | ORPHA:442835 |
| APRT | adenine phosphoribosyltransferase | ORPHA:976 |
| ATP1A2 | ATPase Na+/K+ transporting subunit alpha 2 | ORPHA:442835 |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | ORPHA:442835 |
| ATP6V1A | ATPase H+ transporting V1 subunit A | ORPHA:442835 |
| BCKDK | branched chain keto acid dehydrogenase kinase | ORPHA:308410 |
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | ORPHA:442835 |
| CACNA1B | calcium voltage-gated channel subunit alpha1 B | ORPHA:442835 |
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | ORPHA:442835 |
| CBS | cystathionine beta-synthase | ORPHA:394 |
| CDK19 | cyclin dependent kinase 19 | ORPHA:442835 |
| CELF2 | CUGBP Elav-like family member 2 | ORPHA:442835 |
| CLTC | clathrin heavy chain | ORPHA:442835 |
| CLTRN | collectrin, amino acid transport regulator | ORPHA:2116 |
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | ORPHA:442835 |
| CTH | cystathionine gamma-lyase | ORPHA:212 |
| CTNS | cystinosin, lysosomal cystine transporter | ORPHA:411641 |
| CYFIP2 | cytoplasmic FMR1 interacting protein 2 | ORPHA:442835 |
| DALRD3 | DALR anticodon binding domain containing 3 | ORPHA:442835 |
| DCT | dopachrome tautomerase | ORPHA:597733 |
| DEPDC5 | DEP domain containing 5, GATOR1 subcomplex subunit | ORPHA:442835 |
| DHDDS | dehydrodolichyl diphosphate synthase subunit | ORPHA:442835 |
| DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | ORPHA:79154 |
| DNAJC12 | DnaJ heat shock protein family (Hsp40) member C12 | ORPHA:508523 |
| DNM1 | dynamin 1 | ORPHA:442835 |
| EEF1A2 | eukaryotic translation elongation factor 1 alpha 2 | ORPHA:442835 |
| FBXO28 | F-box protein 28 | ORPHA:442835 |
| FGF12 | fibroblast growth factor 12 | ORPHA:442835 |
| FOXG1 | forkhead box G1 | ORPHA:442835 |
| FZR1 | fizzy and cell division cycle 20 related 1 | ORPHA:442835 |
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | ORPHA:442835 |
| GABRA2 | gamma-aminobutyric acid type A receptor subunit alpha2 | ORPHA:442835 |
| GABRA5 | gamma-aminobutyric acid type A receptor subunit alpha5 | ORPHA:442835 |
| GABRB2 | gamma-aminobutyric acid type A receptor subunit beta2 | ORPHA:442835 |
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma2 | ORPHA:442835 |
| GAMT | guanidinoacetate N-methyltransferase | ORPHA:382 |
| GATM | glycine amidinotransferase | ORPHA:35704 |
| GCDH | glutaryl-CoA dehydrogenase | ORPHA:25 |
| GCH1 | GTP cyclohydrolase 1 | ORPHA:2102 |
| GCLC | glutamate-cysteine ligase catalytic subunit | ORPHA:33574 |
| GCSH | glycine cleavage system protein H | ORPHA:289863 |
| GGT1 | gamma-glutamyltransferase 1 | ORPHA:33573 |
| GLDC | glycine decarboxylase | ORPHA:289863 |
| GLS | glutaminase | ORPHA:557064 |
| GLUL | glutamate-ammonia ligase | ORPHA:71278 |
| GNMT | glycine N-methyltransferase | ORPHA:289891 |
| GPR143 | G protein-coupled receptor 143 | ORPHA:54 |
| GPX4 | glutathione peroxidase 4 | ORPHA:93317 |
| GRIN2D | glutamate ionotropic receptor NMDA type subunit 2D | ORPHA:442835 |
| GSR | glutathione-disulfide reductase | ORPHA:90030 |
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）