Details of Disease | DrugMAP

General Information of Disease (ID: DISDBRL6)

Disease Name	ALG3-congenital disorder of glycosylation
Synonyms	carbohydrate-deficient glycoprotein syndrome type IV (formerly); congenital disorder of glycosylation, type Id; carbohydrate-deficient glycoprotein syndrome, type IV, formerly; CDG 1D; CDGS4 (formerly); ALG3-CDG (CDG-Id); carbohydrate-deficient glycoprotein syndrome, type IV; CDGS, type IV, formerly; CDG Id; CDGS, type IV; ALG3-CDG; carbohydrate deficient glycoprotein syndrome type Id; CDGId; CDG-Id; ALG3-congenital disorder of glycosylation; mannosyltransferase 6 deficiency; CDG syndrome type Id; CDG1D; congenital disorder of glycosylation type Id; congenital disorder of glycosylation type 1d
Definition	A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).
Disease Hierarchy	DISBHHT1: Congenital disorder of glycosylation type I DIST8BQR: Disorder of protein N-glycosylation DISDBRL6: ALG3-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0010998 MESH ID C535742 UMLS CUI C1832736 OMIM ID 601110 MedGen ID 322026 Orphanet ID 79321 SNOMED CT ID 720976009

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	moderate	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPDU1	OT27UPHN	moderate	Biomarker	[2]
ALG3	OTPOL1QW	Definitive	Autosomal recessive	[3]
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References

1	ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.Mol Genet Metab. 2013 Sep-Oct;110(1-2):170-5. doi: 10.1016/j.ymgme.2013.05.020. Epub 2013 Jun 7.
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.