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Disease Profile
Mucopolysaccharidosis type IIIA
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
-
ICD-10
E76.2
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)
Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; Heparan sulfate sulfatase deficiency;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Mucopolysaccharidosis type IIIA (MPS IIIA) is a severe, progressive disorder that affects the
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Asymmetric septal hypertrophy | 0001670 | |
0000007 | ||
Coarse facial features |
Coarse facial appearance
|
0000280 |
Coarse hair |
Coarse hair texture
|
0002208 |
Dense calvaria |
Dense skull cap
|
0000250 |
Diarrhea |
Watery stool
|
0002014 |
Dysostosis multiplex | 0000943 | |
Growth abnormality |
Abnormal growth
Growth issue
[ more ] |
0001507 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Heparan sulfate excretion in urine | 0002159 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hirsutism |
Excessive hairiness
|
0001007 |
Hyperactivity |
More active than typical
|
0000752 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Ovoid thoracolumbar vertebrae | 0003309 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
0001250 | ||
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Splenomegaly |
Increased spleen size
|
0001744 |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Thickened ribs | 0000900 |
Diagnosis
If a carrier of MPS IIIA is concerned about having an affected child, his/her partner can be screened for the most common mutations known to cause the condition.[5] If no mutation is found in the partner, that person's risk to be a carrier would decrease significantly but would not be eliminated.
People interested in obtaining more specific information about genetic testing and/or carrier
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.
Treatment
Currently, drug therapy is not part of the standard of care for MPS IIIA. Medications are used to relieve symptoms (such as anticonvulsants for
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 -
Cure Sanfilippo Foundation
PO Box 6901
Columbia, SC 29260
Telephone: 803-413-0595
E-mail: [email protected]
Website: https://curesanfilippofoundation.org/ -
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 -
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.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/ -
Sanfilippo Children's Foundation
PO Box 475
Freshwater NSW 2096
Australia
Telephone: 1800 664 878
Website: https://www.sanfilippo.org.au/
Contact form: https://www.sanfilippo.org.au/about-us/contact-us -
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 -
Team Sanfilippo Foundation
PO Box 1152
Ronkonkoma, NY 11779
Telephone: 518-879-6571
E-mail: https://teamsanfilippo.org/contact-us
Website: https://www.teamsanfilippo.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Mucopolysaccharidosis type IIIA. 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 Mucopolysaccharidosis type IIIA. Click on the link to view a sample search on this topic.
References
- Mucopolysaccharidosis type III. Genetics Home Reference. August, 2010; https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii. Accessed 5/5/2014.
- Mucopolysaccharidoses Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 23, 2016; https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucopolysaccharidoses-Fact-Sheet.
- Haldeman-Englert C. Sanfilippo syndrome. MedlinePlus. May 7, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/001210.htm. Accessed 7/2/2015.
- Roseline Froissart and Irène Maire. Mucopolysaccharidosis type 3. Orphanet. February, 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=581. Accessed 5/5/2014.
- Emil Kakkis and Robert Wynn. Mucopolysaccharidoses: Clinical features and diagnosis. UpToDate. Waltham, MA: UpToDate; May, 2014; Accessed 5/7/2014.
- Germaine L Defendi. Genetics of Mucopolysaccharidosis Type III. Medscape. March 21, 2014; https://emedicine.medscape.com/article/948540-treatment.
- Mucopolysaccharidoses Fact Sheet. NINDS. June 30, 2015; https://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm.
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