Congenital Disorders of Glycosylation
Gene: MPI
CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.
Well established gene-disease association, numerous families reported.Created: 20 Dec 2020, 6:02 a.m. | Last Modified: 20 Dec 2020, 6:02 a.m.
Panel Version: 0.307
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Publications
Gene: mpi has been classified as Green List (High Evidence).
Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Publications for gene: MPI were set to
Mode of inheritance for gene: MPI was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: MPI was added gene: MPI was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MPI was set to Unknown