has material basis in germline mutation in MPI syndromic disease congenital disorder of glycosylation type I MPI-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_ib icd11.foundation:803079134 Mannosephosphate isomerase deficiency Saguenay Lac Saint Jean syndrome MONDO:0011257 congenital disorder of glycosylation, type IB MPI-CDG congenital disorder of glycosylation type 1b CDG gastrointestinal type CDG, gastrointestinal type Orphanet:79319 CDG syndrome type IB CDG-Ib UMLS:C1865145 OMIM:602579 Slsj syndrome SCTID:124668009 congenital disorder of glycosylation type IB CDG Ib GARD:0009830 MEDGEN:400692 MPI-CDG (CDG-Ib) Protein-losing enteropathy-hepatic fibrosis syndrome Saguenay-Lac Saint-Jean syndrome phosphomannose isomerase deficiency 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). CDG1B Mpi deficiency carbohydrate-deficient glycoprotein syndrome type 1B MESH:C535740 ICD9:277.6 SLSJ syndrome CDG 1B DOID:0080554 carbohydrate deficient glycoprotein syndrome type IB disorder of protein N-glycosylation lymphatic malformation