Congenital disorder of glycosylation
- Synonyms
- Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (42 available)
Biochemical Genetics Tests
Genes See tests for all associated and related genes
Also known as: CDG1S, CXorf45, DEE36, EIEE36, GLT28D1, MDS031, TDRD13, YGL047W, ALG13
Summary: ALG13 UDP-N-acetylglucosaminyltransferase subunitAlso known as: AGER1, CDG1R, GATD6, OKSWcl45, OST, OST48, WBP1, DDOST
Summary: dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunitAlso known as: CDG1U, DPM2
Summary: dolichyl-phosphate mannosyltransferase subunit 2, regulatoryAlso known as: CDG1CC, IAP, MRX95, OST3B, PRO0756, SLC58A1, XMEN, bA217H1.1, MAGT1
Summary: magnesium transporter 1Also known as: CDG1T, GSD14, PGM1
Summary: phosphoglucomutase 1Also known as: CDG1Y, TRAPD, SSR4
Summary: signal sequence receptor subunit 4Also known as: CDG2K, FT27, GDT1, SLC64A1, TMPT27, TPARL, TMEM165
Summary: transmembrane protein 165Also known as: D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2, TUSC3
Summary: tumor suppressor candidate 3
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