/ALG12-congenital disorder of glycosylation

ALG12-congenital disorder of glycosylation

Rare Disease

MONDO:0011783

Also Known As

ALG12-CDGALG12-congenital disorder of glycosylationCDG syndrome type IgCDG-IgCDG1GCDGIgcarbohydrate deficient glycoprotein syndrome type Igcongenital disorder of glycosylation type 1gcongenital disorder of glycosylation type Igmannosyltransferase 8 deficiencyALG12-CDG (CDG-Ig)CDG 1GCDG Igcongenital disorder of glycosylation, type Ig

Definition

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).