先天性糖基化障碍
Congenital disorder of glycosylation
ORPHA:137疾病组
定义 英文原文（暂无中文）
A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.
别名
碳水化合物缺乏糖蛋白综合征
基本事实
- 遗传方式
- 常染色体隐性、X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Europe）
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 |
|---|---|---|
| ALG1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | ORPHA:79327 |
| ALG11 | ALG11 alpha-1,2-mannosyltransferase | ORPHA:280071 |
| ALG12 | ALG12 alpha-1,6-mannosyltransferase | ORPHA:79324 |
| ALG13 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | ORPHA:324422 |
| ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | ORPHA:79326 |
| ALG3 | ALG3 alpha-1,3- mannosyltransferase | ORPHA:79321 |
| ALG6 | ALG6 alpha-1,3-glucosyltransferase | ORPHA:79320 |
| ALG8 | ALG8 alpha-1,3-glucosyltransferase | ORPHA:79325 |
| ALG9 | ALG9 alpha-1,2-mannosyltransferase | ORPHA:79328 |
| B3GALT6 | beta-1,3-galactosyltransferase 6 | ORPHA:642099 |
| B3GAT3 | beta-1,3-glucuronyltransferase 3 | ORPHA:284139 |
| B3GLCT | beta 3-glucosyltransferase | ORPHA:709 |
| B4GALT1 | beta-1,4-galactosyltransferase 1 | ORPHA:79332 |
| CAD | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | ORPHA:448010 |
| CHST14 | carbohydrate sulfotransferase 14 | ORPHA:2953 |
| CHSY1 | chondroitin sulfate synthase 1 | ORPHA:363417 |
| COG1 | component of oligomeric golgi complex 1 | ORPHA:263508 |
| COG2 | component of oligomeric golgi complex 2 | ORPHA:435934 |
| COG4 | component of oligomeric golgi complex 4 | ORPHA:263501 |
| COG5 | component of oligomeric golgi complex 5 | ORPHA:263487 |
| COG6 | component of oligomeric golgi complex 6 | ORPHA:464443 |
| COG7 | component of oligomeric golgi complex 7 | ORPHA:79333 |
| COG8 | component of oligomeric golgi complex 8 | ORPHA:95428 |
| DAG1 | dystroglycan 1 | ORPHA:280333 |
| DDOST | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | ORPHA:300536 |
| DLL3 | delta like canonical Notch ligand 3 | ORPHA:2311 |
| DOLK | dolichol kinase | ORPHA:91131 |
| DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | ORPHA:86309 |
| DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | ORPHA:79322 |
| DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | ORPHA:329178 |
| DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | ORPHA:263494 |
| DSE | dermatan sulfate epimerase | ORPHA:2953 |
| EXT2 | exostosin glycosyltransferase 2 | ORPHA:466926 |
| FKRP | fukutin related protein | ORPHA:370968 |
| GMPPB | GDP-mannose pyrophosphorylase B | ORPHA:370968 |
| GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | ORPHA:602 |
| HES7 | hes family bHLH transcription factor 7 | ORPHA:2311 |
| KCTD7 | potassium channel tetramerization domain containing 7 | ORPHA:263516 |
| KRT5 | keratin 5 | ORPHA:79145 |
| LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | ORPHA:370968 |
| LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | ORPHA:2311 |
| MAN1B1 | mannosidase alpha class 1B member 1 | ORPHA:397941 |
| MESP2 | mesoderm posterior bHLH transcription factor 2 | ORPHA:2311 |
| MGAT2 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | ORPHA:79329 |
| MOGS | mannosyl-oligosaccharide glucosidase | ORPHA:79330 |
| MPDU1 | mannose-P-dolichol utilization defect 1 | ORPHA:79323 |
| MPI | mannose phosphate isomerase | ORPHA:79319 |
| PGAP2 | post-GPI attachment to proteins 2 | ORPHA:247262 |
| PGAP3 | post-GPI attachment to proteins phospholipase 3 | ORPHA:247262 |
| PGM1 | phosphoglucomutase 1 | ORPHA:319646 |
| PGM3 | phosphoglucomutase 3 | ORPHA:443811 |
| PIGA | phosphatidylinositol glycan anchor biosynthesis class A | ORPHA:300496 |
| PIGG | phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | ORPHA:488635 |
| PIGL | phosphatidylinositol glycan anchor biosynthesis class L | ORPHA:3474 |
| PIGM | phosphatidylinositol glycan anchor biosynthesis class M | ORPHA:83639 |
| PIGN | phosphatidylinositol glycan anchor biosynthesis class N | ORPHA:280633 |
| PIGO | phosphatidylinositol glycan anchor biosynthesis class O | ORPHA:247262 |
| PIGT | phosphatidylinositol glycan anchor biosynthesis class T | ORPHA:369837 |
| PIGV | phosphatidylinositol glycan anchor biosynthesis class V | ORPHA:247262 |
| PIGW | phosphatidylinositol glycan anchor biosynthesis class W | ORPHA:83639 |
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）