Details of Disease | DrugMAP

General Information of Disease (ID: DISJ394F)

Disease Name	MPI-congenital disorder of glycosylation
Synonyms	Slsj syndrome; Saguenay-Lac Saint-Jean syndrome; congenital disorder of glycosylation, type IB; Mpi deficiency; CDG Ib; Protein-losing enteropathy-hepatic fibrosis syndrome; CDG gastrointestinal type; CDG 1B; CDG, gastrointestinal type; carbohydrate-deficient glycoprotein syndrome type 1B; Saguenay Lac Saint Jean syndrome; MPI-CDG (CDG-Ib); Mannosephosphate isomerase deficiency; SLSJ syndrome; CDG-Ib; phosphomannose isomerase deficiency; carbohydrate deficient glycoprotein syndrome type IB; CDG syndrome type IB; CDG1B; congenital disorder of glycosylation type 1b; congenital disorder of glycosylation type IB; MPI-CDG
Definition	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).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISBHHT1: Congenital disorder of glycosylation type I DIS4D8VL: Lymphatic malformation DIST8BQR: Disorder of protein N-glycosylation DISJ394F: MPI-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0011257 MESH ID C535740 UMLS CUI C1865145 OMIM ID 602579 MedGen ID 400692 Orphanet ID 79319 SNOMED CT ID 1231141008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PMM2	DEBRX3L	Limited	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPI	OTBH6ZK1	Definitive	Autosomal recessive	[2]
TMEM11	OTL9HDEY	Definitive	Genetic Variation	[1]
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References

1	Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.J Biol Chem. 2011 Nov 11;286(45):39431-8. doi: 10.1074/jbc.M111.285502. Epub 2011 Sep 26.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.