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Genetic and Rare Diseases Information Center (GARD)

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Congenital disorder of glycosylation type 1A


Other Names for this Disease
  • Carbohydrate-deficient glycoprotein syndrome type 1A
  • Carbohydrate-deficient glycoprotein syndrome type 1A (formerly)
  • CDG 1A
  • CDG1A
  • Jaeken syndrome
More Names
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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 Congenital disorder of glycosylation type 1A. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital disorder of glycosylation type 1A. Click on the link to view a sample search on this topic.