GTR Home > Conditions/Phenotypes > Congenital disorder of glycosylation type 1E

Summary

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579). [from OMIM]

Available tests

21 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: RP5-914P20.2, CDGIE, MPDS, DPM1
    Summary: dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit

Clinical features

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  • Splenomegaly
  • Strabismus
  • EEG abnormalities
  • Prolonged partial thromboplastin time
  • Small hand
  • Flat occiput
  • High, narrow palate
  • Ankle contracture
  • Microcephaly
  • Pontocerebellar atrophy
  • Cognitive impairment
  • Nail dysplasia
  • Muscular dystrophy
  • Downslanted palpebral fissures
  • Micrognathia
  • Seizure
  • Nystagmus
  • Telangiectasia
  • Tremor
  • Failure to thrive
  • Hypertelorism
  • Smooth philtrum
  • Abnormality of the eye
  • Retinopathy
  • Optic atrophy
  • Hemangioma
  • Ataxia
  • Muscular hypotonia
  • Patent ductus arteriosus
  • Reduced antithrombin III activity
  • Respiratory distress
  • Hepatomegaly
  • Lower limb hyperreflexia
  • Elevated hepatic transaminases
  • Elevated serum creatine phosphokinase
  • Type I transferrin isoform profile
  • Short palm
  • Reduced protein S activity
  • Depressed nasal bridge
  • Postnatal microcephaly
  • Reduced protein C activity
  • Knee flexion contracture
  • Upper limb undergrowth
  • Cortical visual impairment
  • Severe global developmental delay
  • Camptodactyly
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