/ALG1-congenital disorder of glycosylation

ALG1-congenital disorder of glycosylation

Rare Disease

MONDO:0012052

Also Known As

ALG1-CDGALG1-congenital disorder of glycosylationCDG syndrome type IkCDG-IkCDG1Kcarbohydrate deficient glycoprotein syndrome type Ikcongenital disorder of glycosylation type 1kcongenital disorder of glycosylation type Ikmannosyltransferase 1 deficiencyALG1-CDG (CDG-Ik)CDG 1KCDG Ikcongenital disorder of glycosylation, type Ik

Definition

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).