MPI-congenital disorder of glycosylation
MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).
MONDO:0002254
syndromic disease
is_a
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
MONDO:0019313
lymphatic malformation
is_a
CDG 1B
related
CDG gastrointestinal type
related
CDG syndrome type IB
exact
CDG-Ib
exact
CDG1B
exact
MPI-CDG
exact
MPI-CDG (CDG-Ib)
related
SLSJ syndrome
related
Saguenay Lac Saint Jean syndrome
related
carbohydrate deficient glycoprotein syndrome type IB
exact
carbohydrate-deficient glycoprotein syndrome type 1B
related
congenital disorder of glycosylation type 1b
exact
congenital disorder of glycosylation type IB
exact
congenital disorder of glycosylation, type IB
related
phosphomannose isomerase deficiency
exact
SPBC2G2.16