ALG1-CDG

From BugSigDB


A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
Aliases
  • ALG1-CDG
  • ALG1-CDG (CDG-Ik)
  • Carbohydrate deficient glycoprotein syndrome type Ik
  • carbohydrate deficient glycoprotein syndrome type Ik
  • CDG 1K
  • CDG Ik
  • CDG syndrome type Ik
  • CDG-Ik
  • CDG1K
  • Congenital disorder of glycosylation type 1k
  • congenital disorder of glycosylation type 1k
  • Congenital disorder of glycosylation type Ik
  • congenital disorder of glycosylation type Ik
  • congenital disorder of glycosylation, type Ik
  • Mannosyltransferase 1 deficiency
  • mannosyltransferase 1 deficiency