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congenital disorder of glycosylation type 1E

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
Uniprot Description A form of congenital disorder of glycosylation, 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. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy.
Mondo Term and Equivalent IDs
MONDO:0012123:  congenital disorder of glycosylation type 1E
DOID:0080557: 
GARD:0009831: 
MESH:C535743: 
NCIT:C126871: 
Orphanet:79322: 
SCTID:725078006: