Disease association ontology term - MONDO:0012052 - ALG1-congenital disorder of glycosylation

Term summary

ID

MONDO:0012052

Name

ALG1-congenital disorder of glycosylation

Ontology or CV name

Disease association

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).

Parents

• is_a congenital disorder of glycosylation type I
• is_a disorder of protein N-glycosylation

Annotation