ALG2-CDG

What is ALG2-CDG?

A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene <i>ALG2</i> (9q31.1). Transmission is autosomal recessive.

Other condition names

  • CDG syndrome type Ii
  • CDG-Ii
  • CDG1I
  • Carbohydrate deficient glycoprotein syndrome type Ii
  • Congenital disorder of glycosylation type 1i
  • Congenital disorder of glycosylation type Ii
  • Mannosyltransferase 2 deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.