Published in:
Open Access 01-08-2011 | Editorial
CDG – an update
Published in: Journal of Inherited Metabolic Disease | Issue 4/2011
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As of 2011, we know more than 3000 inherited diseases. Among these genetic entities, congenital disorders of glycosylation is one of the most rapidly growing groups, with actually about 50 subtypes known, positioning CDG in the focus of attention of both clinicians and basic scientists (Table 1).
Table 1
Congenital disorders of glycosylation: disorders according to the new nomenclature (previous nomenclature in brackets)
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Defects of protein N-glycosylation
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Defects of protein O-glycosylation
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Defects of glycosphingolipid and GPI-anchor glycosylation
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Defects of multiple glycosylation and other pathways
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|---|---|---|---|
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PMM2-CDG (CDG-Ia)
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EXT1/EXT2-CDG
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SIAT9-CDG
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DPM1-CDG (CDG-Ie)
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MPI-CDG (CDG-Ib)
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B4GALT7-CDG
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PIGM-CDG
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DPM3-CDG (CDG-Io)
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ALG6-CDG (CDG-Ic)
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GALNT3-CDG
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PIGV-CDG
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MPDU1-CDG (CDG-If)
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ALG3-CDG (CDG-Id)
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SLC35D1-CDG
|
|
GNE-CDG
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ALG12-CDG (CDG-Ig)
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POMGNT1-CDG
|
|
B4GALT1-CDG (CDG-IId)
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ALG8-CDG (CDG-Ih)
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SCDO3-CDG
|
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SLC35A1-CDG (CDG-IIf)
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ALG2-CDG (CDG-Ii)
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B3GALTL-CDG
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SLC35C1-CDG (CDG-IIc)
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DPAGT1-CDG (CDG-Ij)
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|
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DK1-CDG (CDG-Im)
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ALG1-CDG (CDG-Ik)
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|
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SRD5A3-CDG (CDG-Iq)
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ALG9-CDG (CDG-Il)
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|
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COG-CDG (COG1, COG4, COG5, COG6, COG7, COG8)
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RFT1-CDG (CDG-In)
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|
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ATP6V0A2-CDG
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ALG11-CDG (CDG Ip)
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SEC23B-CDG
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TUSC3-CDG
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|
|
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MAGT1-CDG
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|
|
|
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MGAT2-CDG (CDG-IIa)
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GCS1-CDG (CDG-IIb)
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