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COG4-CDG

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
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.
Disease Ontology Description A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1.
Mondo Term and Equivalent IDs
MONDO:0013281:  COG4-CDG
GARD:0012412: 
Orphanet:263501: 
SCTID:718751000: 
UMLS:C3150736: