COG8-congenital disorder of glycosylation- MedGen UID:
- 409971
- •Concept ID:
- C1970021
- •
- Disease or Syndrome
Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.
ALG6-congenital disorder of glycosylation 1C- MedGen UID:
- 443952
- •Concept ID:
- C2930997
- •
- Disease or Syndrome
Congenital disorders of glycosylation, previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are caused by defects in mannose addition during N-linked oligosaccharide assembly. CDGs can be divided into 2 types, depending on whether they impair lipid-linked oligosaccharide (LLO) assembly and transfer (CDG I), or affect trimming of the protein-bound oligosaccharide or the addition of sugars to it (CDG II) (Orlean, 2000).
CDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. It is the second largest subtype of CDG (summary by Sun et al., 2005).
For a discussion of the classification of CDGs, see CDG1A (212065).
Freeze and Aebi (1999) reviewed CDG Ib (602579) and CDG Ic.