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Disease Profile
Mucopolysaccharidosis type VI
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
Childhood
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)
MPS VI; Mucopolysaccharidosis type 6; MPS 6;
Categories
Metabolic disorders
Summary
Orpha Number: 583
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 | ||
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Disproportionate short-trunk |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ] |
0003521 |
Epiphyseal dysplasia |
Abnormal development of the ends of long bones in arms and legs
|
0002656 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Mucopolysacchariduria | 0008155 | |
Opacification of the corneal stroma | 0007759 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Sinusitis |
Sinus inflammation
|
0000246 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
Thick nasal alae | 0009928 | |
30%-79% of people have these symptoms | ||
Broad ribs |
Wide ribs
|
0000885 |
Genu valgum |
Knock knees
|
0002857 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hernia | 0100790 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Ovoid vertebral bodies | 0003300 | |
Short neck |
Decreased length of neck
|
0000470 |
Splenomegaly |
Increased spleen size
|
0001744 |
5%-29% of people have these symptoms | ||
Abnormal heart valve morphology | 0001654 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Percent of people who have these symptoms is not available through HPO | ||
Anterior wedging of L1 | 0008432 | |
Anterior wedging of L2 | 0011941 | |
0000007 | ||
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
Disease of the heart muscle
|
0001638 | |
Cervical myelopathy | 0002318 | |
Constrictive median neuropathy | 0012185 | |
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 |
Dermatan sulfate excretion in urine | 0008301 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Dysostosis multiplex | 0000943 | |
Flared iliac wings | 0002869 | |
0000501 | ||
Hepatomegaly |
Enlarged liver
|
0002240 |
Hip dysplasia | 0001385 | |
Hirsutism |
Excessive hairiness
|
0001007 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of the odontoid process | 0003311 | |
Hypoplastic acetabulae | 0003274 | |
Hypoplastic iliac wing | 0002866 | |
Inguinal hernia | 0000023 | |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Prominent sternum | 0000884 | |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] |
0001171 |
Umbilical hernia | 0001537 |
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.
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- N-acetylgalactosamine-4-sulfatase, recombinant human(Brand name: Naglazyme) Manufactured by BioMarin Pharmaceutical, Inc.
FDA-approved indication: For patients with mucopolysaccharidosis VI. Galsulfase has been shown to improve walking and stair-climbing capacity.
National Library of Medicine Drug Information Portal
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 -
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
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.
In-Depth Information
- 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 VI. Click on the link to view a sample search on this topic.