Details of Disease | DrugMAP

General Information of Disease (ID: DISWQLPO)

Disease Name	Congenital disorder of glycosylation type 1E
Synonyms	CDG Ie; CDG 1E; DPM1-CDG; carbohydrate-deficient glycoprotein syndrome type 1E; congenital disorder of glycosylation, type Ie; DPM1-CDG (CDG-Ie); CDG syndrome type Ie; carbohydrate deficient glycoprotein syndrome type Ie; congenital disorder of glycosylation type 1E; DPM1 congenital disorder of glycosylation; CDGIe; congenital disorder of glycosylation type 1e; CDG-Ie; CDG1E; congenital disorder of glycosylation type Ie; Dol-P-mannosyltransferase deficiency; congenital disorder of glycosylation caused by mutation in DPM1
Definition	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
Disease Hierarchy	DISO85MT: Disorder of multiple glycosylation DISBHHT1: Congenital disorder of glycosylation type I DIS400QP: Congenital disorder of glycosylation DISWQLPO: Congenital disorder of glycosylation type 1E
Disease Identifiers	MONDO ID MONDO_0012123 MESH ID C535743 UMLS CUI C1837396 OMIM ID 608799 MedGen ID 324784 Orphanet ID 79322 SNOMED CT ID 725078006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PMM2	DEBRX3L	Strong	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG12	OTVAT4OJ	moderate	Biomarker	[2]
DPM1	OTXRRVGT	Definitive	Autosomal recessive	[3]
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References

1	Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.J Clin Invest. 2000 Jan;105(2):233-9. doi: 10.1172/JCI8691.
2	Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.Glycobiology. 2005 Nov;15(11):1084-93. doi: 10.1093/glycob/cwj006. Epub 2005 Aug 3.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.