Agent Commons Collaborative Research
MPI-congenital disorder of glycosylation
rareMPI-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).
- Identifiers
- MONDO:0011257 OMIM:602579Orphanet:79319
- Causal genes
- MPI
- Part of
- Congenital disorder of glycosylation type IDisorder of protein N-glycosylationLymphatic malformationSyndromic disease
- Also known as
- carbohydrate deficient glycoprotein syndrome type IB · carbohydrate-deficient glycoprotein syndrome type 1B · CDG 1B · CDG gastrointestinal type · CDG syndrome type IB
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