Details of Disease | DrugMAP

General Information of Disease (ID: DIS1SOPV)

Disease Name	STT3A-congenital disorder of glycosylation
Synonyms	CDG Iw; congenital disorder of glycosylation, type Iw; CDG syndrome type Iw; congenital disorder of glycosylation, type Iw, autosomal recessive; STT3A-CDG; CDG1W; CDG-Iw; STT3A-congenital disorder of glycosylation; congenital disorder of glycosylation type 1w; congenital disorder of glycosylation type Iw
Definition	STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).
Disease Hierarchy	DISBHHT1: Congenital disorder of glycosylation type I DIST8BQR: Disorder of protein N-glycosylation DIS1SOPV: STT3A-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0014270 UMLS CUI C5561935 OMIM ID 615596 MedGen ID 1794145 Orphanet ID 370921

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
STT3A	OTDPS6AV	Strong	Autosomal recessive	[1]
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References

1	Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013 Nov 15;22(22):4638-45. doi: 10.1093/hmg/ddt312. Epub 2013 Jul 10.