碳水化合物代谢紊乱
Disorder of carbohydrate metabolism
ORPHA:79161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 |
|---|---|---|
| ABCA2 | ATP binding cassette subfamily A member 2 | ORPHA:88616 |
| ABCC8 | ATP binding cassette subfamily C member 8 | ORPHA:552 |
| AGA | aspartylglucosaminidase | ORPHA:93 |
| AGL | amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | ORPHA:366 |
| AGTPBP1 | ATP/GTP binding carboxypeptidase 1 | ORPHA:2254 |
| AGXT | alanine--glyoxylate aminotransferase | ORPHA:93598 |
| AIMP1 | aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | ORPHA:88616 |
| ALDOA | aldolase, fructose-bisphosphate A | ORPHA:57 |
| ALDOB | aldolase, fructose-bisphosphate B | ORPHA:469 |
| ALKBH8 | alkB homolog 8, tRNA methyltransferase | ORPHA:88616 |
| APPL1 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | ORPHA:552 |
| ARSB | arylsulfatase B | ORPHA:276212 |
| ARSK | arylsulfatase family member K | ORPHA:662216 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | ORPHA:88616 |
| BLK | BLK proto-oncogene, Src family tyrosine kinase | ORPHA:552 |
| BTD | biotinidase | ORPHA:79241 |
| CA5A | carbonic anhydrase 5A | ORPHA:401948 |
| CC2D1A | coiled-coil and C2 domain containing 1A | ORPHA:88616 |
| CEL | carboxyl ester lipase | ORPHA:552 |
| CEP104 | centrosomal protein 104 | ORPHA:88616 |
| CHKA | choline kinase alpha | ORPHA:88616 |
| CLIP1 | CAP-Gly domain containing linker protein 1 | ORPHA:88616 |
| CRADD | CARD and death domain containing adaptor protein | ORPHA:88616 |
| CRBN | cereblon | ORPHA:88616 |
| CTSA | cathepsin A | ORPHA:351 |
| DCPS | decapping enzyme, scavenger | ORPHA:88616 |
| DCXR | dicarbonyl and L-xylulose reductase | ORPHA:2843 |
| DLAT | dihydrolipoamide S-acetyltransferase | ORPHA:79244 |
| DLD | dihydrolipoamide dehydrogenase | ORPHA:2394 |
| EDC3 | enhancer of mRNA decapping 3 | ORPHA:88616 |
| EEF1B2 | eukaryotic translation elongation factor 1 beta 2 | ORPHA:88616 |
| ENO3 | enolase 3 | ORPHA:99849 |
| EPM2A | EPM2A glucan phosphatase, laforin | ORPHA:501 |
| EXOSC3 | exosome component 3 | ORPHA:2254 |
| EXOSC8 | exosome component 8 | ORPHA:2254 |
| EXOSC9 | exosome component 9 | ORPHA:2254 |
| EZR | ezrin | ORPHA:88616 |
| FBP1 | fructose-bisphosphatase 1 | ORPHA:348 |
| FBXO31 | F-box protein 31 | ORPHA:88616 |
| FERRY3 | FERRY endosomal RAB5 effector complex subunit 3 | ORPHA:88616 |
| FMN2 | formin 2 | ORPHA:88616 |
| FRRS1L | ferric chelate reductase 1 like | ORPHA:88616 |
| FUCA1 | alpha-L-fucosidase 1 | ORPHA:349 |
| G6PC1 | glucose-6-phosphatase catalytic subunit 1 | ORPHA:79258 |
| G6PD | glucose-6-phosphate dehydrogenase | ORPHA:466026 |
| GAA | alpha glucosidase | ORPHA:308552 |
| GALE | UDP-galactose-4-epimerase | ORPHA:308473 |
| GALK1 | galactokinase 1 | ORPHA:79237 |
| GALNS | galactosamine (N-acetyl)-6-sulfatase | ORPHA:309297 |
| GALT | galactose-1-phosphate uridylyltransferase | ORPHA:79239 |
| GBE1 | 1,4-alpha-glucan branching enzyme 1 | ORPHA:206583 |
| GCK | glucokinase | ORPHA:79299 |
| GEMIN5 | gem nuclear organelle associated protein 5 | ORPHA:88616 |
| GK | glycerol kinase | ORPHA:284411 |
| GLB1 | galactosidase beta 1 | ORPHA:309310 |
| GLYCTK | glycerate kinase | ORPHA:941 |
| GNS | glucosamine (N-acetyl)-6-sulfatase | ORPHA:79272 |
| GPI | glucose-6-phosphate isomerase | ORPHA:712 |
| GRHPR | glyoxylate and hydroxypyruvate reductase | ORPHA:93599 |
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | ORPHA:88616 |
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）