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PMM2-CDG

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report PMM2-CDG is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • carbohydrate-deficient glycoprotein syndrome, type Ia
  • congenital disorder of glycosylation type Ia
  • CDG1A
  • CDGS Type Ia
  • Jaeken syndrome

Disorder Subdivisions

  • None

General Discussion

Summary

PMM2-CDG, formerly known as congenital disorder of glycosylation type 1a, is a rare multisystem disorder that involves a normal, but complex, chemical process known as glycosylation. Glycosylation is the process by which sugar chains (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins. Glycoproteins have varied important functions within the body and are essential for the normal growth and function of numerous tissues and organs. PMM2-CDG can affect virtually any part of the body, although most cases usually have an important neurological component. PMM2-CDG is associated with a broad and highly variable range of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases. Most cases are apparent in infancy. PMM2-CDG is caused by mutations of the phosphomannomutase-2 (PMM2) gene and is inherited as an autosomal recessive condition.



Introduction

PMM2-CDG belongs to a group of disorders known as the congenital disorders of glycosylation (CDG). CDG were first reported in the medical literature in 1980 by Dr. Jaak Jaeken, et al. More than 50 different forms of CDG have been reported in the ensuing years. PMM2-CDG is the most common form. Several different names have been used to describe these disorders including carbohydrate-deficient glycoprotein syndromes. Recently, researchers have proposed a classification system that names each subtype by the official abbreviation of its defective gene followed by a dash and CDG. Congenital disorder of glycosylation type 1a is now known as PMM2-CDG. CDG are a rapidly growing disease family and information about these disorders is constantly changing.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Internet: http://www.CLIMB.org.uk



Vaincre Les Maladies Lysosomales

2 Ter Avenue

Massy, 91300

France

Tel: 0169754030

Fax: 0160111583

Email: accueil@vml-asso.org

Internet: http://www.vml-asso.org



Lighthouse International

111 E 59th St

New York, NY 10022-1202

Tel: (800)829-0500

Email: info@lighthouse.org

Internet: http://www.lighthouse.org



National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317

Watertown, MA 02272-0317

Tel: (617)972-7441

Fax: (617)972-7444

Tel: (800)562-6265

Email: napvi@perkins.org

Internet: http://www.napvi.org



United Leukodystrophy Foundation

224 N. 2nd St.

Suite 2

DeKalb, IL 60115

Tel: (815)748-3211

Tel: (800)728-5483

Email: office@ulf.org

Internet: http://www.ulf.org/



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



CDG Family Network

PO Box 860847

Plano, TX 75074

Tel: (800)250-5273

Email: cdgaware@aol.com

Internet: http://www.cdgs.com



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  7/30/2012

Copyright  1996, 1997, 1998, 2006, 2012 National Organization for Rare Disorders, Inc.

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