氨基酸吸收和转运异常
Disorder of amino acid absorption and transport
ORPHA:79166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 |
| ACTL6B | actin like 6B | ORPHA:442835 |
| AP3B2 | adaptor related protein complex 3 subunit beta 2 | ORPHA:442835 |
| 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 |
| 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 |
| 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 |
| CTNS | cystinosin, lysosomal cystine transporter | ORPHA:411641 |
| CYFIP2 | cytoplasmic FMR1 interacting protein 2 | ORPHA:442835 |
| DALRD3 | DALR anticodon binding domain containing 3 | ORPHA:442835 |
| DEPDC5 | DEP domain containing 5, GATOR1 subcomplex subunit | ORPHA:442835 |
| DHDDS | dehydrodolichyl diphosphate synthase subunit | ORPHA:442835 |
| 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 |
| GRID2 | glutamate ionotropic receptor delta type subunit 2 | ORPHA:363432 |
| GRIN2D | glutamate ionotropic receptor NMDA type subunit 2D | ORPHA:442835 |
| GRM1 | glutamate metabotropic receptor 1 | ORPHA:324262 |
| HCN1 | hyperpolarization activated cyclic nucleotide gated potassium channel 1 | ORPHA:442835 |
| KCNA2 | potassium voltage-gated channel subfamily A member 2 | ORPHA:442835 |
| KCNB1 | potassium voltage-gated channel subfamily B member 1 | ORPHA:442835 |
| KCNC2 | potassium voltage-gated channel subfamily C member 2 | ORPHA:442835 |
| KCNH5 | potassium voltage-gated channel subfamily H member 5 | ORPHA:442835 |
| MDGA2 | MAM domain containing glycosylphosphatidylinositol anchor 2 | ORPHA:442835 |
| NECAP1 | NECAP endocytosis associated 1 | ORPHA:442835 |
| NTRK2 | neurotrophic receptor tyrosine kinase 2 | ORPHA:442835 |
| NUS1 | NUS1 dehydrodolichyl diphosphate synthase subunit | ORPHA:442835 |
| PACS2 | phosphofurin acidic cluster sorting protein 2 | ORPHA:442835 |
| PARS2 | prolyl-tRNA synthetase 2, mitochondrial | ORPHA:442835 |
| PPP3CA | protein phosphatase 3 catalytic subunit alpha | ORPHA:442835 |
| SCN1A | sodium voltage-gated channel alpha subunit 1 | ORPHA:442835 |
| SCN3A | sodium voltage-gated channel alpha subunit 3 | ORPHA:442835 |
| SCN8A | sodium voltage-gated channel alpha subunit 8 | ORPHA:442835 |
| SLC13A5 | solute carrier family 13 member 5 | ORPHA:442835 |
| SLC1A1 | solute carrier family 1 member 1 | ORPHA:2195 |
| SLC1A2 | solute carrier family 1 member 2 | ORPHA:442835 |
| SLC1A3 | solute carrier family 1 member 3 | ORPHA:209967 |
| SLC36A2 | solute carrier family 36 member 2 | ORPHA:42062 |
| SLC38A3 | solute carrier family 38 member 3 | ORPHA:442835 |
| SLC38A8 | solute carrier family 38 member 8 | ORPHA:397618 |
| SLC3A1 | solute carrier family 3 member 1 | ORPHA:93612 |
| SLC6A17 | solute carrier family 6 member 17 | ORPHA:457212 |
| SLC6A19 | solute carrier family 6 member 19 | ORPHA:2116 |
| SLC7A7 | solute carrier family 7 member 7 | ORPHA:470 |
| SLC7A9 | solute carrier family 7 member 9 | ORPHA:93613 |
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）