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Disease Profile
Alpha-mannosidosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
E77.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Lysosomal alpha-D-mannosidase deficiency; Alpha mannosidase B deficiency; Mannosidosis, alpha B lysosomal
Categories
Congenital and Genetic Diseases; Eye diseases; Heart Diseases;
Summary
Alpha mannosidosis is a lysosomal storage disorder, a form of inborn metabolic disease. It is characterized by
According to the severity of the symptoms it is classified in 3 sub-types:
- Type 1: A mild form recognized after age ten years with absence of skeletal abnormalities, muscle problems (myopathy), and slow progression
- Type 2: A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression. It is the most common form.
- Type 3: A severe form manifested as pregnancy loss or early death from progressive
central nervous system involvement.
Alpha mannosidosis is caused by a
Symptoms
- Type 1. Mild form with onset after age ten years, with muscle weakness (myopathy), slow progression, and absence of skeletal abnormalities
- Type 2. Moderate form with onset before age ten years, with myopathy, slow progression, and presence of skeletal abnormalities such as reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), bowed legs or knock knees, and deterioration of the bones and joints. Most cases are classified into this type.
- Type 3. Severe form with progressive symptoms, leading to early death from primary
central nervous system (brain and spinal cord) involvement or infection
Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue.
Other symptoms may include:[1][2]
- Difficulty in coordinating movements (
ataxia ) - Delay in developing motor skills such as sitting and walking
- Speech impairments
- Increased risk of infections due to
immunodeficiency (with decreased ability to produce specific substances to fight infections (antibodies ) - Enlargement of the liver and spleen (
hepatosplenomegaly ) - Buildup of fluid in the brain (
hydrocephalus ) Hearing loss - Eye problems, such as clouding of the lens of the eye (
cataract ), and near-sightednes (myopia) - Pain and inflamed joints
Some people with alpha-mannosidosis have mental problems such as depression, anxiety, or hallucinations. Heart and kidney problems may also occur.[2]
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Cataract |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Corneal opacity | 0007957 | |
Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Global |
0001263 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypoplastic inferior ilia | 0008821 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Skeletal dysplasia | 0002652 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
30%-79% of people have these symptoms | ||
Abnormality of the helix | 0011039 | |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Generalized abnormality of skin |
Generalised abnormality of skin
|
0011354 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hip dysplasia | 0001385 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Inguinal hernia | 0000023 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Macrotia |
Large ears
|
0000400 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
5%-29% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Synostosis of joints |
Fusion of joints
|
0100240 |
Conditions with similar signs and symptoms from Orphanet
|
---|
The principle differential diagnoses are other lysosomal storage diseases, such as the various forms of mucopolysaccharidosis (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
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: [email protected]
Website: https://www.mpssociety.ca -
Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Suite 466
Long Beach, CA 90803
Toll-free: (844) 762-7672
E-mail: [email protected]
Website: https://hideandseek.org -
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: [email protected]
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: [email protected]
Website: https://www.mpssociety.co.uk -
The International Advocates for Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga, CA 95070
E-mail: [email protected]
Website: https://www.ismrd.org/
Organizations Providing General Support
-
Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: [email protected]
Website: https://www.alextlc.org
Learn more
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.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 Alpha-mannosidosis. Click on the link to view a sample search on this topic.
References
- Alpha-Mannosidosis. Genetics Home Reference. 2014; https://www.ghr.nlm.nih.gov/condition/alpha-mannosidosis.
- Malm D & Nilssen O. Alpha-Mannosidosis. GeneReview. 2012; https://www.ncbi.nlm.nih.gov/books/NBK1396/.
- Borgwardt L, Lund AM & Dali CI. Alpha-mannosidosis a review of genetic, clinical findings and options of treatment.. Pediatr Endocrinol Rev. September, 2014; 12(1):185-91. https://www.ncbi.nlm.nih.gov/pubmed/25345101.
- Kniffen CL. Mannosidosis, Alpha B, Lysosomal. OMIM. May 24 2016; https://omim.org/entry/248500.
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