ALG1-congenital disorder of glycosylation
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).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
ALG1-CDG
exact
ALG1-CDG (CDG-Ik)
related
ALG1-congenital disorder of glycosylation
exact
CDG 1K
related
CDG syndrome type Ik
exact
CDG-Ik
exact
CDG1K
exact
carbohydrate deficient glycoprotein syndrome type Ik
exact
congenital disorder of glycosylation type 1k
exact
congenital disorder of glycosylation type Ik
exact
congenital disorder of glycosylation, type Ik
related
mannosyltransferase 1 deficiency
exact
SPAC23C4.14