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Disease Profile
Sialidosis, type II
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.
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Age of onset
Antenatal
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)
Mucolipidosis type 1; Neuraminidase deficiency; Lipomucopolysaccharidosis;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Sialidosis is a severe
Symptoms
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 | ||
Abnormal macular morphology | 0001103 | |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Corneal opacity | 0007957 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Dysostosis multiplex | 0000943 | |
Global |
0001263 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hydrops fetalis | 0001789 | |
Inguinal hernia | 0000023 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Nephropathy | 0000112 | |
Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ] |
0010741 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Splenomegaly |
Increased spleen size
|
0001744 |
Umbilical hernia | 0001537 | |
30%-79% of people have these symptoms | ||
0001251 | ||
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
0000939 | ||
Pectus carinatum |
Pigeon chest
|
0000768 |
0001250 | ||
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Tremor | 0001337 | |
5%-29% of people have these symptoms | ||
Abnormality of bone marrow |
0005561 | |
Dysphonia |
Inability to produce voice sounds
|
0001618 |
Dyspnea |
Trouble breathing
|
0002094 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Muscle weakness |
Muscular weakness
|
0001324 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Bone-marrow foam cells | 0004333 | |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Disease of the heart muscle
|
0001638 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cherry red spot of the macula | 0010729 | |
Dysmetria |
Lack of coordination of movement
|
0001310 |
Epiphyseal stippling |
Speckled calcifications in end part of bone
|
0010655 |
Facial edema |
Facial puffiness
Facial swelling
[ more ] |
0000282 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Increased urinary O-linked sialopeptides | 0003461 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Myoclonus | 0001336 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Sensorineural hearing impairment | 0000407 | |
Slurred speech | 0001350 | |
Urinary excretion of sialylated oligosaccharides | 0012061 | |
Vacuolated |
0001922 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The main differential diagnoses include galactosialidosis (characterized by deficiencies in both beta galactosidase and neuraminidase) and mucopolysaccharidosis type 1, 2 or 6 (see these terms). Many patients of the juvenile sub-group, in particular, may appear to have a form of galactosialidosis.
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/
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Sialidosis, type II. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Sialidosis, type II. Click on the link to view a sample search on this topic.
References
- Sialidosis. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/sialidosis. Accessed 8/13/2015.
- Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; https://rarediseases.org/rare-diseases/sialidosis/. Accessed 8/13/2015.