多发性糖基化障碍

Disorder of multiple glycosylation

ORPHA:309526疾病组

相关基因 23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
B4GALT1	beta-1,4-galactosyltransferase 1	ORPHA:79332
CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	ORPHA:448010
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
DOLK	dolichol kinase	ORPHA:91131
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
GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	ORPHA:602
MPDU1	mannose-P-dolichol utilization defect 1	ORPHA:79323
PGM3	phosphoglucomutase 3	ORPHA:443811
SEC23B	SEC23 homolog B, COPII component	ORPHA:98873
SLC35A1	solute carrier family 35 member A1	ORPHA:238459
SLC35A2	solute carrier family 35 member A2	ORPHA:356961
SLC35C1	solute carrier family 35 member C1	ORPHA:99843
SRD5A3	steroid 5 alpha-reductase 3	ORPHA:324737
VMA12	vacuolar ATPase assembly factor VMA12	ORPHA:466703
VMA22	vacuolar ATPase assembly factor VMA22	ORPHA:468684

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