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ALG6-CDG

Disease definition

A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ORPHA:79320

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type Ic
    • CDG-Ic
    • CDG1C
    • Carbohydrate deficient glycoprotein syndrome type Ic
    • Congenital disorder of glycosylation type 1c
    • Congenital disorder of glycosylation type Ic
    • Glucosyltransferase 1 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 603147
  • UMLS: C2930997
  • MeSH: -
  • GARD: 9829
  • MedDRA: -

Detailed information

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