5C54.0
蛋白质N糖基化异常
Disorders of protein N-glycosylation
- 层级
- 5 级
定义
涉及蛋白质N-糖基化缺陷的先天性疾病（通过N-乙酰氨基葡萄糖的异位碳和L-天冬酰胺氨基之间的β连接到多肽链的聚糖添加）。
Congenital disorders involving defective N-glycosylation of proteins (the addition of glycans linked to the polypeptide chain by a beta-linkage between the anomeric carbon of N-acetylglucosamine and the amido group of L-asparagine).
索引词 可用于检索该条目的同义词与别名
- 蛋白质N糖基化异常
- 磷酸甘露糖酶2缺乏症
- 碳水化合物糖蛋白缺乏综合征1A型
- 先天性糖基化1A型疾病
- CDG[先天性糖基化紊乱]综合征1A型
- 磷酸甘露糖异构酶缺乏症
- 碳水化合物糖蛋白缺乏综合征1B型
- 先天性糖基化1B型
- CDG[先天性糖基化障碍]综合征1B型
- SLSJ[Saguenay-Lac-Saint-Jean]综合征
- SLSJ综合征
- 葡萄糖基转移酶1缺乏症
- 碳水化合物缺乏型糖蛋白综合征1C型
- 先天性糖基化紊乱1C型
- CDG[先天性糖基化紊乱]综合征1C型
- Dol-P-Glc：Man9-GlcNAc2-P-P-Dol葡糖基转移酶缺陷
- 甘露糖转移酶6缺乏症
- 碳水化合物缺乏糖蛋白综合征1D型
- 先天性糖基化疾病1D型
- CDG[先天性糖基化紊乱]综合征1D型
- Dol-P-Man：Man5-GlcNAc2-P-P-Dol甘露糖基转移酶缺陷
- 甘露糖转移酶8缺乏症
- 碳水化合物缺乏型糖蛋白综合征1G型
- 先天性糖基化型1G型
- CDG[先天性糖基化紊乱]综合征1G型
- Dol-P-Man：Man7-GlcNAc2-P-P-Dol甘露糖基转移酶缺乏症
- 葡萄糖基转移酶2缺乏症
- 碳水化合物缺乏糖蛋白综合征1H型
- 先天性糖基化1H型
- CDG[先天性糖基化紊乱]综合征1H型
- Dol-P-Glc：Glc 1-Man9-GlcNAc 2-P-P-Dol葡萄糖基转移酶缺陷
- 甘露糖基转移酶2缺乏症
- 碳水化合物缺乏糖蛋白综合征1I型
- 先天性糖基化障碍1I型
- CDG[先天性糖基化紊乱]综合征1I型
- Dol-P-Man：Man1-GlcNAc2-P-P-Dol甘露糖基转移酶缺陷
- 萜醇基磷酸N-乙酰半乳糖胺磷酸转移酶缺乏症
- 碳水化合物缺乏糖蛋白综合征1J型
- 先天性糖基化型1J型
- CDG[先天性糖基化紊乱]综合征1J型
- UDP-GlcNAc：Dol-P-GlcNac-P转移酶缺陷
- 甘露糖基转移酶1缺乏症
- 碳水化合物缺乏糖蛋白综合征1K型
- 先天性糖基化型1K型
- CDG[先天性糖基化紊乱]综合征1K型
- Dol-P-Man：GlcNAc2-P-P-Dol甘露糖基转移酶缺乏症
- 甘露糖基转移酶7-9缺乏
- 1L的碳水化合物缺乏糖蛋白综合征
- CDG[[先天性糖基化紊乱]综合征1L型
- 1L糖基化的先天性疾病
- Dol-P-Man：Man6和Man8-GlcNAc2-P-P-Dol甘露糖基转移酶缺乏症
- M5-DLO翻转缺陷
- CDG[先天性糖基化紊乱] 1N型综合征
- Man5GlcNAc2-PP-Dol翻转缺陷
- RTF1-CDG
- N-乙酰葡糖胺基转移酶缺乏症
- 2A型碳水化合物缺乏糖蛋白综合征
- 先天性糖基化2A型
- CDG[[先天性糖基化紊乱]综合征2A型
- 葡萄糖苷酶1缺乏症
- 2B型碳水化合物缺乏型糖蛋白综合征
- 先天性糖基化2B型
- CDG[先天性糖基化障碍]综合征2B型
- TUSC3先天性糖基化紊乱
- TUSC3-CDG
- SRD5A3先天性糖基化紊乱
- 类固醇5-α-还原酶3型缺乏引起的先天性糖基化紊乱
- 智力缺陷-白内障-眼缺损-脊柱后凸
- Kahrizi综合征
- 智力缺陷，Kahrizi型
- SRD5A3-CDG
- DPM3先天性糖基化紊乱
- 先天性糖基化型1O型
- 碳水化合物缺乏型糖蛋白综合征1型
- CDG[先天性糖基化紊乱]综合征1O型
- ALG11先天性糖基化紊乱
- CDG[先天性糖基化紊乱]综合征1P型
- 1P的碳水化合物缺乏糖蛋白综合征
- 先天性糖基化1P型
- 磷酸葡萄糖苷酶-1缺乏症
- PGM1-CDG[磷酸葡萄糖苷酶-1缺乏症]
- 先天性糖基化1t型
英文词条（82）
- Disorders of protein N-glycosylation
- Phosphomannomutase 2 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1A
- Carbohydrate deficient glycoprotein syndrome type 1A
- Congenital disorder of glycosylation type 1A
- Phosphomannose isomerase deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1B
- Carbohydrate deficient glycoprotein syndrome type 1B
- Congenital disorder of glycosylation type 1B
- SLSJ - [Saguenay-Lac-Saint-Jean] syndrome
- Saguenay-Lac-Saint-Jean syndrome
- Glucosyltransferase 1 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1C
- Carbohydrate deficient glycoprotein syndrome type 1C
- Congenital disorder of glycosylation type 1C
- Dol-P-Glc: Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiency
- Mannosyltransferase 6 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1D
- Carbohydrate deficient glycoprotein syndrome type 1D
- Congenital disorder of glycosylation type 1D
- Dol-P-Man: Man5-GlcNAc2-P-P-Dol mannosyltransferase deficiency
- Mannosyltransferase 8 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1G
- Carbohydrate deficient glycoprotein syndrome type 1G
- Congenital disorder of glycosylation type 1G
- Dol-P-Man: Man7-GlcNAc2-P-P-Dol mannosyltransferase deficiency
- Glucosyltransferase 2 deficiency
- CDG - [[Congenital disorder of glycosylation] syndrome type 1H
- Carbohydrate deficient glycoprotein syndrome 1H
- Congenital disorder of glycosylation type 1H
- Dol-P-Glc: Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiency
- Mannosyltransferase 2 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1I
- Carbohydrate deficient glycoprotein syndrome 1I
- Congenital disorder of glycosylation 1I
- Dol-P-Man: Man1-GlcNAc2-P-P-Dol mannosyltransferase deficiency
- Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
- CDG - [[Congenital disorder of glycosylation] syndrome type 1J
- Carbohydrate deficient glycoprotein syndrome type 1J
- Congenital disorder of glycosylation type 1J
- UDP-GlcNAc: Dol-P-GlcNac-P transferase deficiency
- Mannosyltransferase 1 deficiency
- CDG - [[Congenital disorder of glycosylation] syndrome type 1K
- Carbohydrate deficient glycoprotein syndrome type 1K
- Congenital disorder of glycosylation type 1K
- Dol-P-Man: GlcNAc2-P-P-Dol mannosyltransferase deficiency
- Mannosyltransferase 7-9 deficiency
- CDG - [[Congenital disorder of glycosylation] syndrome type 1L
- Carbohydrate deficient glycoprotein syndrome type 1L
- Congenital disorder of glycosylation type 1L
- Dol-P-Man: Man6 and Man8-GlcNAc2-P-P-Dol mannosyltransferase deficiency
- M5-DLO flippase deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1N
- Man5GlcNAc2-PP-Dol flippase deficiency
- RTF1-CDG
- N-acetylglucosaminyltransferase deficiency
- CDG - [[Congenital disorder of glycosylation] syndrome type 2A
- Carbohydrate deficient glycoprotein syndrome type 2A
- Congenital disorder of glycosylation type 2A
- Glucosidase 1 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 2B
- Carbohydrate deficient glycoprotein syndrome type 2B
- Congenital disorder of glycosylation type 2B
- TUSC3 congenital disorder of glycosylation
- TUSC3-CDG
- SRD5A3 congenital disorder of glycosylation
- Congenital disorder of glycosylation due to steroid 5-alpha-reductase type 3 deficiency
- Intellectual deficit - cataract - coloboma - kyphosis
- Intellectual deficit, Kahrizi type
- Kahrizi syndrome
- SRD5A3-CDG
- DPM3 congenital disorder of glycosylation
- CDG - [Congenital disorder of glycosylation] syndrome type 1O
- Carbohydrate deficient glycoprotein syndrome type 1O
- Congenital disorder of glycosylation type 1O
- ALG11 congenital disorder of glycosylation
- CDG - [Congenital disorder of glycosylation] syndrome type 1P
- Carbohydrate deficient glycoprotein syndrome type 1P
- Congenital disorder of glycosylation type 1P
- Phosphoglucomutase-1 deficiency
- Congenital disorder of glycosylation type 1t
- PGM1-CDG - [Phosphoglucomutase-1 deficiency]
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。