Search for a rare disease
Other search option(s)
ALG1-CDG
Disease definition
A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
ORPHA:79327
Classification level: Disorder- Synonym(s):
- CDG syndrome type Ik
- CDG-Ik
- CDG1K
- Carbohydrate deficient glycoprotein syndrome type Ik
- Congenital disorder of glycosylation type 1k
- Congenital disorder of glycosylation type Ik
- Mannosyltransferase 1 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- ICD-11: 5C54.0
- OMIM: 608540
- UMLS: C2931005
- MeSH: -
- GARD: 9838
- MedDRA: -
A summary on this disease is available in Español (2016) Français (2016) Nederlands (2016) Deutsch (2006)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
Genetic Testing
- Guidance for genetic testing
- English (2015) - 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.