碳水化合物吸收和转运障碍
Disorder of carbohydrate absorption and transport
ORPHA:309001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 |
| AGTPBP1 | ATP/GTP binding carboxypeptidase 1 | ORPHA:2254 |
| AIMP1 | aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | ORPHA:88616 |
| ALKBH8 | alkB homolog 8, tRNA methyltransferase | ORPHA:88616 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | ORPHA:88616 |
| CC2D1A | coiled-coil and C2 domain containing 1A | ORPHA:88616 |
| 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 |
| DCPS | decapping enzyme, scavenger | ORPHA:88616 |
| EDC3 | enhancer of mRNA decapping 3 | ORPHA:88616 |
| EEF1B2 | eukaryotic translation elongation factor 1 beta 2 | ORPHA:88616 |
| EXOSC3 | exosome component 3 | ORPHA:2254 |
| EXOSC8 | exosome component 8 | ORPHA:2254 |
| EXOSC9 | exosome component 9 | ORPHA:2254 |
| EZR | ezrin | ORPHA:88616 |
| 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 |
| GEMIN5 | gem nuclear organelle associated protein 5 | ORPHA:88616 |
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | ORPHA:88616 |
| GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | ORPHA:88616 |
| GRIN1 | glutamate ionotropic receptor NMDA type subunit 1 | ORPHA:88616 |
| GRM7 | glutamate metabotropic receptor 7 | ORPHA:88616 |
| HNMT | histamine N-methyltransferase | ORPHA:88616 |
| IMPA1 | inositol monophosphatase 1 | ORPHA:88616 |
| IQSEC1 | IQ motif and Sec7 domain ArfGEF 1 | ORPHA:88616 |
| KDM5B | lysine demethylase 5B | ORPHA:88616 |
| LCT | lactase | ORPHA:53690 |
| LINS1 | lines homolog 1 | ORPHA:88616 |
| LMAN2L | lectin, mannose binding 2 like | ORPHA:88616 |
| MAN1B1 | mannosidase alpha class 1B member 1 | ORPHA:88616 |
| MBOAT7 | membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | ORPHA:88616 |
| MED23 | mediator complex subunit 23 | ORPHA:88616 |
| MED25 | mediator complex subunit 25 | ORPHA:88616 |
| METTL23 | methyltransferase 23, arginine | ORPHA:88616 |
| NAA20 | N-alpha-acetyltransferase 20, NatB catalytic subunit | ORPHA:88616 |
| NCDN | neurochondrin | ORPHA:88616 |
| NDST1 | N-deacetylase and N-sulfotransferase 1 | ORPHA:88616 |
| NEMF | nuclear export mediator factor | ORPHA:88616 |
| NSUN2 | NOP2/Sun RNA methyltransferase 2 | ORPHA:88616 |
| PGAP1 | post-GPI attachment to proteins inositol deacylase 1 | ORPHA:88616 |
| PIGC | phosphatidylinositol glycan anchor biosynthesis class C | ORPHA:88616 |
| PRSS12 | serine protease 12 | ORPHA:88616 |
| RSRC1 | arginine and serine rich coiled-coil 1 | ORPHA:88616 |
| SARS1 | seryl-tRNA synthetase 1 | ORPHA:88616 |
| SI | sucrase-isomaltase | ORPHA:35122 |
| SLC16A1 | solute carrier family 16 member 1 | ORPHA:165991 |
| SLC16A12 | solute carrier family 16 member 12 | ORPHA:247794 |
| SLC17A5 | solute carrier family 17 member 5 | ORPHA:309324 |
| SLC25A46 | solute carrier family 25 member 46 | ORPHA:2254 |
| SLC2A1 | solute carrier family 2 member 1 | ORPHA:53583 |
| SLC45A1 | solute carrier family 45 member 1 | ORPHA:88616 |
| SLC5A1 | solute carrier family 5 member 1 | ORPHA:35710 |
| SLC5A2 | solute carrier family 5 member 2 | ORPHA:69076 |
| TECR | trans-2,3-enoyl-CoA reductase | ORPHA:88616 |
| TNIK | TRAF2 and NCK interacting kinase | 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）