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ALG2-CDG

Disease definition

A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

ORPHA:79326

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type Ii
    • CDG-Ii
    • CDG1I
    • Carbohydrate deficient glycoprotein syndrome type Ii
    • Congenital disorder of glycosylation type 1i
    • Congenital disorder of glycosylation type Ii
    • Mannosyltransferase 2 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • ICD-11: 5C54.0
  • OMIM: 607906
  • UMLS: C1842836
  • MeSH: C000623088
  • GARD: 9836
  • MedDRA: -

  A summary on this disease is available in Español (2016) Français (2016) Italiano (2016) Nederlands (2016) Deutsch (2006)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR 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

Newborn screening

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.