Congenital disorder of glycosylation type 1A Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood. (Orphanet Rare Disease Ontology, Orphanet_79318)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C535739
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Genes

1 genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PMM2 phosphomannomutase 2 2.88009