ALG8-congenital disorder of glycosylation
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.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
ALG8-CDG
exact
ALG8-CDG (CDG-Ih)
related
ALG8-congenital disorder of glycosylation
exact
CDG 1H
related
CDG syndrome type Ih
exact
CDG-Ih
exact
CDG1H
exact
carbohydrate deficient glycoprotein syndrome type Ih
exact
congenital disorder of glycosylation type 1h
exact
congenital disorder of glycosylation type Ih
exact
congenital disorder of glycosylation, type Ih
related
glucosyltransferase 2 deficiency
exact
SPAC17C9.07