MeSH Browser

MeSH Supplementary: Congenital disorder of glycosylation type 1A
Unique ID: C535739
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535739
Entry Term(s): Carbohydrate-Deficient Glycoprotein Syndrome Type Ia; Carbohydrate-deficient glycoprotein syndrome type 1A; Congenital Disorder of Glycosylation Type Ia; Congenital Disorder of Glycosylation, Type Ia; Jaeken syndrome; PMM2 deficiency; Phosphomannomutase 2 deficiency; Pmm2-CDG
Registry Numbers: 0
Heading Mapped to: Phosphotransferases (Phosphomutases) / deficiency; *Congenital Disorders of Glycosylation
Frequency: 64
Note: 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. Affected individuals exhibit a range of growth, neuromuscular, eye, liver, immunologic, and gastrointestinal abnormalities; 20% die in the first year of life due to infections, HEPATIC INSUFFICIENCY or CARDIOMYOPATHY. Mutations have been identified in the PMM2 gene for type Ia. OMIM: 212065
Date of Entry: 2010/08/25
Revision Date: 2019/06/19

Congenital disorder of glycosylation type 1A MeSH Supplementary Concept Data 2025