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  3. Mannosidosis, beta A, lysosomal
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Mannosidosis, beta A, lysosomal


Title




Other Names:
Beta-mannosidosis; Lysosomal beta-mannosidase deficiency; Beta-mannosidase deficiency
Categories:
Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders; Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders; Musculoskeletal Diseases; Nervous System Diseases See More

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 118

Definition
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2015

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 17 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Hypoplasia of the abdominal wall musculature 0005247
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
Seizure 0001250
5%-29% of people have these symptoms
Demyelinating peripheral neuropathy 0007108
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ]
0001939
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
0000718
Angiokeratoma 0001014
Autosomal recessive inheritance 0000007
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Hyperactivity
More active than typical
0000752
Increased urinary disaccharide excretion 0012066
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ]
0002167
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
0002719
Tortuosity of conjunctival vessels 0000503
Showing of 17 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
    #218-2055 Commercial Drive
    Vancouver, BC V5N OC7
    Canada
    Toll-free: 800-667-1846
    Telephone: 604-924-5130
    Fax: 604-924-5131
    E-mail: info@mpssociety.ca
    Website: http://www.mpssociety.ca
  • National MPS Society
    P.O. Box 14686
    Durham, NC 27709-4686
    Toll-free: 1-877-MPS-1001 (1-877-677-1001)
    Telephone: +1-919-806-0101
    Fax: +1-919-806-2055
    E-mail: info@mpssociety.org
    Website: https://mpssociety.org/
  • Society for Mucopolysaccharide (MPS) Diseases
    MPS House Repton Place White Lion Road
    Amersham Buckinghamshire
    HP7 9LP
    United Kingdom
    Telephone: (+44) 0345 389 9901
    E-mail: mps@mpssociety.co.uk
    Website: http://www.mpssociety.co.uk
  • The International Advocates for Glycoprotein Storage Diseases (ISMRD)
    20880 Canyon View Drive
    Saratoga, CA 95070
    E-mail: info@ismrd.org
    Website: https://www.ismrd.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.

In-Depth Information

  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mannosidosis, beta A, lysosomal. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

Other Conferences

  • 2012 International Conference for Glycoprotein Storage Diseases, July 27, 2012 - July 30, 2012
    Location: Crowne Plaza Hotel, Charleston, SC
    Description: The International Society for Mannosidosis & Related Storage Diseases (ISMRD) is sponsoring the 2012 International Conference for Glycoprotein Storage Diseases. The Scientific/Family meetings will be held concurrently on July 28th and 29th. Alongside this meeting, they are hosting the extension of the Natural History Study, with clinic days on July 27th and 30th.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
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