Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 11-09-2009
Symbol CDG1E
Location 20q13.13
Name congenital disorder of glycosylation, type 1E
Other name(s) carbohydrate deficient glycoprotein syndrome, type Ie
Corresponding gene DPM1
Other symbol(s) DPM1-CDG
Main clinical features
  • microcephaly, seizures, facial dysmorphism, severe developmental delay, optic atrophy, cortical blindness, on MRI, delayed myelination, mild cerebral hypoplasia and inconstant cerebellar hypoplasia, elevated creatine kinase and reduced antithrombin, ERG reduced in amplitude
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name dolichol monophosphate mannose synthase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     homozygous intronic mutation, g.IVS4-5T>A
    Remark(s) mannose supplementation failed to improve the glycosylation status of DPM1-deficient fibroblasts, thus precluding a possible therapeutic application of mannose in the patients