ALG1-congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
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).
Also known as ALG1-CDG, ALG1-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Ik, CDG syndrome type Ik, CDG-Ik, CDG1K, congenital disorder of glycosylation type 1k, congenital disorder of glycosylation type Ik, mannosyltransferase 1 deficiency — per MONDO