NORD's
Washington Office
 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
|
|
|
The National Organization for Rare Disorders (NORD) web site, its databases,
and the contents thereof are copyrighted by NORD. No part of the NORD web
site, databases, or the contents may be copied in any way, including but not
limited to the following: electronically downloading, storing in a retrieval
system, or redistributing for any commercial purposes without the express
written permission of NORD. Permission is hereby granted to print one hard
copy of the information on an individual disease for your personal use,
provided that such content is in no way modified, and the credit for the
source (NORD) and NORD’s copyright notice are included on the printed copy.
Any other electronic reproduction or other printed versions is strictly
prohibited.
The information in NORD's Rare Disease Database is for educational purposes only. It
should never be used for diagnostic or treatment purposes. If you have questions regarding
a medical condition, always seek the advice of your physician or other qualified health
professional. NORD's reports provide a brief overview of rare diseases. For more specific
information, we encourage you to contact your personal physician or the agencies listed as
"Resources" on this report.
Copyright 1987, 1988, 1990, 2004, 2006, 2009
NORD is very grateful to Dag Malm, MD, Senior Consultant/Researcher, Department of Medicine, Gastroenterology Section, University Hospital of North Norway, for assistance in the preparation of this report.
Synonyms of Alpha-Mannosidosis
- Alpha-Mannosidase B Deficiency
- Lysosomal Alpha-D-Mannosidase Deficiency
- Mannosidase, Alpha B, Lysosomal
- Mannosidosis
- Mannosidosis, Alpha B, Lysosomal
Disorder Subdivisions
- Alpha-Mannosidosis, Type I
- Alpha-Mannosidosis, Type II
- Alpha-Mannosidosis, Type III
General Discussion
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.
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 within cells. Enzymes within 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 these compounds in the cells of affected individuals with unwanted consequences.
.
Organizations related to Alpha-Mannosidosis
- Arc
1660 L Street, NW, Suite 301
Washington DC 20036
Phone #: 202-534-3700
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 30034
RPO Parkgate
North Vancouver
British Columbia Intl V7H 2Y8
Phone #: (60-4) -924-5130
800 #: 1-8-00--667-1846
e-mail: info@mpssociety.ca
Home page: http://www.mpssociety.ca
- GOLD, Global Organisation For Lysosomal Diseases
3 Albion Rd
Chalfont St Giles
Buckinghamshire None HP8 4EW
Phone #: +44- 14-94-870708
800 #: N/A
e-mail: enquiries@goldinfo.org
Home page: http://www.goldinfo.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- International Advocate For Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga CA 95070
Phone #: 410-628-9991
800 #: N/A
e-mail: info@ismrd.org
Home page: http://www.ismrd.org
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
- National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham NC 27709-4686
Phone #: 919-806-0101
800 #: --
e-mail: info@mpssociety.org
Home page: http://www.mpssociety.org
- National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton MA 02135
Phone #: 617-277-4463
800 #: 800-906-8723
e-mail: info@ntsad.org
Home page: http://www.NTSAD.org
- Society for Mucopolysaccharide Diseases
MPS House
Repton Place
White Lion Road
Amersham
Buckinghamshire None HP7 9LP.
Phone #: 004-401-494 434156
800 #: --
e-mail: mps@mpssociety.co.uk
Home page: http://www.mpssociety.co.uk
- Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.org
|
|
