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ALG6-CDG
Disease 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).
ORPHA:79320
Classification level: Disorder- Synonym(s):
- CDG syndrome type Ic
- CDG-Ic
- CDG1C
- Carbohydrate deficient glycoprotein syndrome type Ic
- Congenital disorder of glycosylation type 1c
- Congenital disorder of glycosylation type Ic
- Glucosyltransferase 1 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- ICD-11: 5C54.0
- OMIM: 603147
- UMLS: C2930997
- MeSH: C535741
- GARD: 9829
- MedDRA: -
A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016) Deutsch (2006) Français (2006)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
Genetic Testing
- Guidance for genetic testing
- English (2014) - Eur J Hum Genet
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.