Details of Disease | DrugMAP

General Information of Disease (ID: DISIVO8V)

Disease Name	ALG2-congenital disorder of glycosylation
Synonyms	ALG2-CDG (CDG-II); carbohydrate-deficient glycoprotein syndrome type 1I; congenital disorder of glycosylation, type Ii; CDG1I; ALG2-CDG; carbohydrate deficient glycoprotein syndrome type Ii; mannosyltransferase 2 deficiency; congenital disorder of glycosylation type Ii; congenital disorder of glycosylation type 1i; CDG syndrome type Ii; CDG 1I; CDG Ii; ALG2-congenital disorder of glycosylation
Definition	A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
Disease Hierarchy	DISBHHT1: Congenital disorder of glycosylation type I DIST8BQR: Disorder of protein N-glycosylation DISIVO8V: ALG2-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0011933 MESH ID C000623088 UMLS CUI C1842836 OMIM ID 607906 MedGen ID 334618 Orphanet ID 79326 SNOMED CT ID 897592003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A8	DTLPQGT	Strong	Genetic Variation	[1]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG2	OT77B384	Strong	Autosomal recessive	[2]
COG1	OT3JSAF7	Strong	Biomarker	[3]
COG4	OT6U94UE	Strong	Genetic Variation	[4]
COG8	OTDEA7YO	Strong	Biomarker	[5]
MAN1B1	OTI780UB	Strong	Biomarker	[6]
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References

1	Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.Sci Rep. 2018 Feb 16;8(1):3163. doi: 10.1038/s41598-018-21464-0.
2	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.
3	Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9. doi: 10.1073/pnas.0507685103. Epub 2006 Feb 28.
4	Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet. 2009 Sep 1;18(17):3244-56. doi: 10.1093/hmg/ddp262. Epub 2009 Jun 3.
5	A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet. 2007 Apr 1;16(7):717-30. doi: 10.1093/hmg/ddl476. Epub 2007 Jan 12.
6	Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24.