/ALG8-congenital disorder of glycosylation

ALG8-congenital disorder of glycosylation

Rare Disease

MONDO:0011969

Also Known As

ALG8-CDGALG8-congenital disorder of glycosylationCDG syndrome type IhCDG-IhCDG1Hcarbohydrate deficient glycoprotein syndrome type Ihcongenital disorder of glycosylation type 1hcongenital disorder of glycosylation type Ihglucosyltransferase 2 deficiencyALG8-CDG (CDG-Ih)CDG 1HCDG Ihcongenital disorder of glycosylation, type Ih

Definition

A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.