Details of Disease

General Information of Disease (ID: DISJLJXQ)

Disease Name Congenital disorder of glycosylation, type 2v
Synonyms CDG2V
Disease Hierarchy
DISEMWE1: Congenital disorder of glycosylation type II
DISJLJXQ: Congenital disorder of glycosylation, type 2v
Disease Identifiers
MONDO ID
MONDO_0030423
UMLS CUI
C5561971
OMIM ID
619493
MedGen ID
1794181

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EDEM3 OT4GJX9R Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. doi: 10.1016/j.ajhg.2021.05.010. Epub 2021 Jun 17.