Preferred Label : Congenital disorder of glycosylation, type I/iix;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : CDG-x;
Description : Congenital disorders of glycosylation (CDGs) are divided into 2 main groups: type
I CDGs (see, e.g., 212065) comprise defects in the assembly of the dolichol lipid-linked
oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type
II CDGs (see, e.g., 212066) refer to defects in the trimming and processing of the
protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments.
Conventionally, untyped and unclassified cases are labeled 'CDG-x' (Orlean, 2000;
Marquardt and Denecke, 2003). The phenotypes described in this entry most likely do
not represent a single disorder, but have been referred by the authors as CDG-x and
are included here pending further molecular characterization. In a review of CDGs,
Marquardt and Denecke (2003) stated that more than 20% of CDG patients identified
still cannot be ascribed to a known enzyme defect and are thus named CDG-x.;
Inheritance : Autosomal recessive;
Prefixed ID : 212067;
Origin ID : 212067;
UMLS CUI : C0349655;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
