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congenital disorder of glycosylation type 1B; carbohydrate-deficient glycoprotein syndrome type 1B
Also see congenital disorder of glycosylation
Genetics:
- associated with defects in MPI (mannose-6-phosphate isomerase)
Clinical manifestations:
- see congenital disorder of glycosylation
- type 1B is associated with protein-losing enteropathy
Laboratory:
- MPI gene mutation
Related
mannose-6-phosphate isomerase; phosphomannose isomerase; PMI; phosphohexomutase (MPI, PMI1)
General
congenital disorder of glycosylation
Database Correlations
OMIM 602579
References
OMIM :accession 602579