x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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
  • OMIM: 607906
  • UMLS: C1842836
  • MeSH: -
  • GARD: 9836
  • MedDRA: -

Detailed information

Professionals

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.