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Disease Profile
Mucopolysaccharidosis 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.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
E76.1
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)
MPS II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II;
Categories
Metabolic disorders
Summary
Mucopolysaccharidosis II (MPS II) is an
There is a wide range in severity of symptoms present in individuals with MPS II. Previously, MPS II was classified as severe and attenuated based on severity. More recently, the terms slowly progressive and early progressive have been suggested. While both types affect many different parts of the body, people with the severe type also experience a decline in intellectual function and a more rapid disease progression. The life expectancy for people with the severe type is 10 to 20 years. Individuals with the less severe type typically live into adulthood and intelligence is not affected. Treatment is focused on managing the signs and symptoms present in each individual.[1][2]
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 | |||
Coarse facial features |
Coarse facial appearance
|
0000280 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
30%-79% of people have these symptoms | |||
Chronic diarrhea | 0002028 | ||
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | |
0005781 | |||
Decreased nerve conduction velocity | 0000762 | ||
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | ||
Dysostosis multiplex | 0000943 | ||
Enlarged tonsils | 0030812 | ||
Flexion contracture of digit | 0030044 | ||
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 | |
Gingival overgrowth |
Gum enlargement
|
0000212 | |
Hepatomegaly |
Enlarged liver
|
0002240 | |
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 | |
Inguinal hernia | 0000023 | ||
Irregularity of vertebral bodies | 0004582 | ||
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 | |
Peripheral visual field loss |
Loss of peripheral vision
|
0007994 | |
Progressive neurologic deterioration |
Worsening neurological symptoms
|
0002344 | |
Recurrent ear infections |
Frequent ear infections
|
0410018 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 | |
Retinal degeneration |
Retina degeneration
|
0000546 | |
Retinopathy |
Noninflammatory retina disease
|
0000488 | |
Sensorineural hearing impairment | 0000407 | ||
Short attention span |
Poor attention span
Problem paying attention
[ more ] |
0000736 | |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 | |
Sleep-wake cycle disturbance | 0006979 | ||
Splenomegaly |
Increased spleen size
|
0001744 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 | |
Umbilical hernia | 0001537 | ||
5%-29% of people have these symptoms | |||
Abnormal aortic morphology | 0001679 | ||
Abnormal epiphyseal ossification | 0010656 | ||
Abnormal foveal morphology | 0000493 | ||
Abnormal full-field electroretinogram | 0030466 | ||
Abnormal mitral valve morphology | 0001633 | ||
Abnormal nasal mucus secretion | 0031416 | ||
Abnormal pulmonary valve morphology | 0001641 | ||
Abnormal tricuspid valve morphology | 0001702 | ||
Abnormality of retinal pigmentation | 0007703 | ||
Disease of the heart muscle
|
0001638 | ||
Communicating |
0001334 | ||
Constrictive median neuropathy | 0012185 | ||
Corneal opacity | 0007957 | ||
Global |
0001263 | ||
Hip dysplasia | 0001385 | ||
Hip osteoarthritis | 0008843 | ||
Hyperactivity |
More active than typical
|
0000752 | |
Muscle stiffness | 0003552 | ||
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ] |
0000662 | |
Optic atrophy | 0000648 | ||
Otosclerosis | 0000362 | ||
Papilledema | 0001085 | ||
Prominent supraorbital ridges |
Prominent brow
|
0000336 | |
Spinal cord compression |
Pressure on spinal cord
|
0002176 | |
Temporomandibular joint ankylosis |
Freezing of jaw joint
|
0012478 | |
Upper airway obstruction | 0002781 | ||
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 | |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 | |
1%-4% of people have these symptoms | |||
Abnormal temper tantrums | 0025160 | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more Diagnosis Yes,
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. Click here to link directly to a list of labs conducting carrier
TreatmentThe resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines
FDA-Approved TreatmentsThe 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.
Related diseasesRelated 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.
OrganizationsSupport 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
Learn moreThese 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
In-Depth Information
References
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