Details of Disease | DrugMAP

General Information of Disease (ID: DISS4LUL)

Disease Name	ALG6-congenital disorder of glycosylation 1C
Synonyms	ALG6-CDG; CDGS5 (formerly); carbohydrate-deficient glycoprotein syndrome, type V (formerly); congenital disorder of glycosylation, type Ic; carbohydrate-deficient glycoprotein syndrome type 1C; CDG 1C; carbohydrate-deficient glycoprotein syndrome, type V, formerly; carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly); carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly; carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide; CDG Ic; carbohydrate-deficient glycoprotein syndrome, type V; congenital disorder of glycosylation type Ic; ALG6-CDG1C; CDG1C; glucosyltransferase 1 deficiency; ALG6-CDG (CDG-Ic); CDGIc; carbohydrate deficient glycoprotein syndrome type Ic; congenital disorder of glycosylation type 1C; congenital disorder of glycosylation caused by mutation in ALG6; ALG6-congenital disorder of glycosylation 1C; CDG syndrome type Ic; CDG-Ic; ALG6 congenital disorder of glycosylation
Definition	A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).
Disease Hierarchy	DISBHHT1: Congenital disorder of glycosylation type I DIS400QP: Congenital disorder of glycosylation DIST8BQR: Disorder of protein N-glycosylation DISS4LUL: ALG6-congenital disorder of glycosylation 1C
Disease Identifiers	MONDO ID MONDO_0011291 MESH ID C535741 UMLS CUI C2930997 OMIM ID 603147 MedGen ID 443952 Orphanet ID 79320 SNOMED CT ID 709412006

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
ALG6	OTZRVUH4	Definitive	Autosomal recessive	[1]
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References

1	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.