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GENATLAS PHENOTYPE
last update : 11-09-2009
Symbol CDG1C
Location 1p31.3
Name congenital disorder of glycosylation, type 1C
Other name(s)
  • carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide
  • carbohydrate-deficient glycoprotein syndrome, type V
    • Corresponding gene ALG6
    Other symbol(s) CDGS5
    Main clinical features
  • moderate to severe psychomotor retardation, seizures, hypotonia, strabismus, and feeding difficulties
  • normal MRI
  • fibroblasts showed a specific deficiency in the assembly of the dolichol-linked oligosaccharide
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name alpha1,3 glucosyltransferase used for synthesis of the lipid linked oligosaccharide (LLO) precursor of the protein N-glycosylation pathway
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function the most common disease-causing mutation, c998C>T (p. Ala333Val) occurs in over half of CDG-Ic patients
    various types     including deletions and aberrant splicing
    Remark(s) CDG type Ic is the second largest subtype of congenital disorder of glycosylation