ALG6-congenital disorder of glycosylation 1C
Findings
No curated finding names ALG6-congenital disorder of glycosylation 1C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0011291), read 2026-09-29. CC BY 4.0.
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Obligate (100% of cases)
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Type I transferrin isoform profileHPOHP:0003642
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALG6HGNC:23157
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
12 names
Resolves to: ALG6-congenital disorder of glycosylation 1C
- Also called
- ALG6 congenital disorder of glycosylationALG6-CDG (CDG-Ic)ALG6-CDG1Ccarbohydrate deficient glycoprotein syndrome type IcCDG syndrome type IcCDG-IcCDG1CCDGIccongenital disorder of glycosylation caused by mutation in ALG6congenital disorder of glycosylation type 1Ccongenital disorder of glycosylation type Icglucosyltransferase 1 deficiency