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COG5-CDG

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Uniprot Description A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments.
Disease Ontology Description A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3.
Mondo Term and Equivalent IDs
MONDO:0013325:  COG5-CDG
GARD:0001173: 
GARD:0012348: 
Orphanet:263487: 
SCTID:721100009: 
UMLS:C3150876: