Congenital disorder of glycosylation, type ib

Preferred Label : Congenital disorder of glycosylation, type ib;

Symbol : CDG1B;

CISMeF acronym : CDG1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIb; Cdg ib; Mannosephosphate isomerase deficiency; Saguenay-lac saint-jean syndrome; Protein-losing enteropathy-hepatic fibrosis syndrome; Cdg, gastrointestinal type; Mpi deficiency; Slsj syndrome;

Description : Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients 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 (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002) Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (603147).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the mannosephosphate isomerase gene (MPI, 154550.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin, type I pattern; Phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver; Hypoalbuminemia;

Prefixed ID : #602579;

Details

Origin ID

602579;

UMLS CUI

C1865145;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1B [MeSH concept]
- MPI-CDG [ORDO Disease]
- Mannosephosphate isomerase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Phosphomannose isomerase deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Ib [DO Concept]
- congenital disorder of glycosylation type 1B [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Ib [DO Concept]
Genes related to phenotype
- Mannosephosphate isomerase [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal thrombosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperinsulinemic hypoglycemia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypotonia [HPO term]
- Lymphangiectasis [HPO term]
- Protein-losing enteropathy [HPO term]
- Reduced antithrombin III activity [HPO term]
- Reduced factor XI activity [HPO term]
- Type I transferrin isoform profile [HPO term]
- Villous atrophy [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- MPI-CDG [ORDO Disease]
See also inter- (CISMeF)
- Deficiency of mannose-6-phosphate isomerase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1B [MeSH concept]
- MPI-CDG [ORDO Disease]
- Mannosephosphate isomerase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type 1B [MeSH Supplementary Concept]

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