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
