Details of Disease

General Information of Disease (ID: DIST8VOO)

Disease Name SLC35A2-congenital disorder of glycosylation
Synonyms
epileptic encephalopathy, early infantile, 22; EIEE22; EIEE22; epileptic encephalopathy, early infantile, 22; congenital disorder of glycosylation, type IIm; CDG IIm; congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant; SLC35A2-CDG; CDG-IIm; congenital disorder of glycosylation type 2m; SLC35A2-congenital disorder of glycosylation; congenital disorder of glycosylation type IIm; CDG syndrome type IIm; CDG2M
Definition
SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
Disease Hierarchy
DISO85MT: Disorder of multiple glycosylation
DISMFQKM: Developmental anomaly of metabolic origin
DISEMWE1: Congenital disorder of glycosylation type II
DIST8VOO: SLC35A2-congenital disorder of glycosylation
Disease Identifiers
MONDO ID
MONDO_0010478
UMLS CUI
C3806688
OMIM ID
300896
MedGen ID
813018
Orphanet ID
356961
SNOMED CT ID
771516000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC35A2 DT0567K Limited Biomarker [1]
SLC35A2 DT0567K Definitive X-linked [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC35A2 OTQOTOWZ Definitive X-linked [2]
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References

1 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.
2 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013 Dec;34(12):1708-14. doi: 10.1002/humu.22446. Epub 2013 Oct 15.