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Diseases

Genetic and Rare Diseases Information Center (GARD)

PMM2-CDG (CDG-Ia)


Other Names for this Disease
  • CDG 1A
  • CDG1A
  • Jaeken syndrome
  • Carbohydrate-deficient glycoprotein syndrome type 1A
  • Phosphomannomutase 2 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal distribution of fat, strabismus, developmental delay, failure to thrive, seizures, and distinctive facial features. About 20 percent of affected infants do not survive the first year of life due to multiple organ failure. The most severe cases of CDG-Ia are characterized by hydrops fetalis. This condition is caused by mutations in the PMM2 gene and is inherited in an autosomal recessive fashion.[1]

Last updated: 9/21/2011

References

  1. Congenital disorder of glycosylation type Ia. Genetics Home Reference. July 2010; http://ghr.nlm.nih.gov/condition/congenital-disorder-of-glycosylation-type-ia. Accessed 9/21/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on PMM2-CDG (CDG-Ia). This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss PMM2-CDG (CDG-Ia). Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CDG 1A
  • CDG1A
  • Jaeken syndrome
  • Carbohydrate-deficient glycoprotein syndrome type 1A
  • Phosphomannomutase 2 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.