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ALG3-CDG
Disease 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).
ORPHA:79321
Classification level: Disorder- Synonym(s):
- CDG syndrome type Id
- CDG-Id
- CDG1D
- Carbohydrate deficient glycoprotein syndrome type Id
- Congenital disorder of glycosylation type 1d
- Congenital disorder of glycosylation type Id
- Mannosyltransferase 6 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- ICD-11: 5C54.0
- OMIM: 601110
- UMLS: C1832736
- MeSH: C535742
- GARD: 9827
- 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
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.