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Disease Profile
Mucopolysaccharidosis type IV
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.
1-5 / 10 000
Age of onset
Infancy
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)
MPS4; MPSIV; Mucopolysaccharidosis type 4;
Categories
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases
Summary
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio
- MPS IVA is caused by changes (
mutations ) in the GALNSgene . - MPS IVB is caused by mutations in the GLB1 gene.
Both forms are
Symptoms
Other features of the condition include:[1][5]
- Coarse facial features
- Hypermobile joints
- Corneal clouding and vision loss
- Heart valve abnormalities
- Respiratory complications, including airway obstruction, sleep apnea and restrictive lung disease
- Widely-spaced, discolored teeth with thin enamel
- Mild to moderate
hearing loss - Mild hepatomegaly
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 epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Corneal opacity | 0007957 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Genu valgum |
Knock knees
|
0002857 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Mucopolysacchariduria | 0008155 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Short neck |
Decreased length of neck
|
0000470 |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
30%-79% of people have these symptoms | ||
Abnormal heart valve morphology | 0001654 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Coxa valga | 0002673 | |
Grayish enamel |
Gray colored tooth enamel
Greyish enamel
[ more ] |
0000683 |
Hernia | 0100790 | |
Hyperlordosis |
Prominent swayback
|
0003307 |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Scoliosis | 0002650 | |
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
5%-29% of people have these symptoms | ||
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Cause
Diagnosis
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
- 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 IV. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) (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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
References
- Debra S Regier, MD, PhD, Matthew Oetgen, MD, and Pranoot Tanpaiboon, MD. Mucopolysaccharidosis Type IVA. GeneReviews. March 2016; https://www.ncbi.nlm.nih.gov/books/NBK148668.
- Kazuki Sawamoto, PhD, MS. Morquio Syndrome (Mucopolysaccharidosis Type IV). Medscape Reference. July 2017; https://emedicine.medscape.com/article/947254-overview.
- Mucopolysaccharidosis IV. National Organization for Rare Disorders. 2016; https://rarediseases.org/rare-diseases/morquio-syndrome/.
- Di Cesare A, Di Cagno A, Moffa S, Teresa P, Luca I, Giombini A. A description of skeletal manifestation in adult case of morquio syndrome: radiographic and MRI appearance. Case Rep Med. 2012; 2012:324596.
- Robert Wynn, MD, MRCP, FRCPath. Mucopolysaccharidoses: Clinical features and diagnosis. UpToDate. June 2017; Accessed 7/24/2017.
- Mucopolysaccharidosis type IV. Genetics Home Reference. July 2010; https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv.
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