Alpha-Mannosidosis

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Alpha-Mannosidosis is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). The symptoms and severity of the disorder are highly variable. Symptoms may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.
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Introduction
Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that function as the primary digestive units. Enzymes within the lysosomes break down or digest particular nutrients, such as complex molecules composed of a sugar attached to a protein (glycoproteins). Low levels or inactivity of the alpha-mannosidase enzyme leads to the abnormal accumulation of compounds upstream in the metabolic pathway in the cells of affected individuals with unwanted consequences.

Supporting Organizations

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

Canadian Society for Mucopolysaccharide and Related Diseases, Inc.

#218-2055 Commercial Drive
Vancouver, BC V5N 0C7
Canada
Tel: (604) 924-5130
Tel: 1-800-667-1846
Email: info@mpssociety.ca
Website: http://www.mpssociety.ca

GOLD, Global Organisation For Lysosomal Diseases

3 Albion Rd
Chalfont St Giles
Buckinghamshire, HP8 4EW
United Kingdom
Tel: 441494870708
Email: enquiries@goldinfo.org
Website: http://www.goldinfo.org

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

Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Website: http://www.hideandseek.org

ISMRD

20880 Canyon View Drive
Saratoga, CA 95070
Email: info@ismrd.org
Website: http://www.ismrd.org/

International Advocate For Glycoprotein Storage Diseases

20880 Canyon View Drive
Saratoga, CA 95070
USA
Email: info@ismrd.org
Website: http://www.ismrd.org

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Website: http://www2.niddk.nih.gov/

National MPS Society, Inc.

PO Box 14686
Durham, NC 27709
Tel: (919)806-0101
Fax: (919)806-2055
Tel: (877)677-1001
Email: info@mpssociety.org
Website: http://www.mpssociety.org

National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street
204
Brookline, MA 02146-4227
USA
Tel: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Website: http://www.NTSAD.org

Society for Mucopolysaccharide Diseases

MPS House
Repton Place
Buckinghamshire, HP7 9LP
United Kingdom
Tel: 03453899901
Fax: 03453899902
Email: mps@mpssociety.co.uk
Website: http://www.mpssociety.org.uk

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

Vaincre Les Maladies Lysosomales

2 Ter Avenue
Massy, 91300
France
Tel: 169754030
Fax: 160111583
Email: accueil@vml-asso.org
Website: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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.

Last Updated:  8/11/2015
Copyright  2015 National Organization for Rare Disorders, Inc.