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Congenital disorder of glycosylation type 1A MeSH Supplementary Concept Data 2024


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 Number
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 Preferred
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