Preferred Label : Congenital disorder of glycosylation, type ic;
Symbol : CDG1C;
CISMeF acronym : CDGS5; CDG1C;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cdg ic; CDGIc; Carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation
of dolichol-linked oligosaccharide; Carbohydrate-deficient glycoprotein syndrome, type V; CDGS5;
Description : 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.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the ALG6 alpha-1,3-glucosyltransferase gene (ALG6, 604566.0001);
Laboratory abnormalities : Elevated serum transaminases during infections; Abnormal isoelectric focusing of serum transferrin (type 1 pattern); Decreased factor XI; Decreased serum cholesterol; Dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase deficiency; Decreased protein C; Decreased antithrombin III;
Prefixed ID : #603147;
Origin ID : 603147;
UMLS CUI : C2930997;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
