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Disease Profile
Mucopolysaccharidosis type I
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
All ages
ICD-10
E76.0
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 1; Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome); Severe MPS I (subtype, also known as Hurler syndrome);
Categories
Newborn Screening
Summary
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by
MPS I was once divided into three separate
Symptoms
- Enlarged head, lips, cheeks, tongue, and nose
- Enlarged vocal cords, resulting in a deep voice
- Frequent upper respiratory infections
- Sleep apnea
Hydrocephalus Hepatosplenomegaly (enlarged liver and spleen)- Umbilical hernia
- Inguinal hernia
Hearing loss - Recurrent ear infections
- Corneal clouding
- Carpal tunnel syndrome
- Narrowing of the spinal canal (spinal stenosis)
- Heart valve abnormalities, which can lead to heart failure
Short stature - Joint deformities (
contractures ) - Dysostosis multiplex (generalized thickening of most long bones, particularly the ribs)
- Developmental delays and regression
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 form of the vertebral bodies | 0003312 | |||
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 voice |
Voice abnormality
|
0001608 | ||
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 | ||
Coarse facial features |
Coarse facial appearance
|
0000280 | ||
Corneal opacity | 0007957 | |||
Generalized hirsutism |
Excessive hairiness over body
|
0002230 | ||
Inguinal hernia | 0000023 | |||
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 | ||
Mucopolysacchariduria | 0008155 | |||
0002650 | ||||
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Sinusitis |
Sinus inflammation
|
0000246 | ||
Splenomegaly |
Increased spleen size
|
0001744 | ||
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] |
0001171 | ||
30%-79% of people have these symptoms | ||||
Abnormal nasal morphology |
Abnormal of nasal shape
Abnormal of shape of nose
[ more ] |
0005105 | ||
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 | ||
Abnormality of the tonsils | 0100765 | |||
Apnea | 0002104 | |||
Arthralgia |
Joint pain
|
0002829 | ||
Cough |
Coughing
|
0012735 | ||
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 | ||
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |||
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 | ||
Enlarged thorax |
Wide rib cage
|
0100625 | ||
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 | ||
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 | ||
Gingival overgrowth |
Gum enlargement
|
0000212 | ||
0000501 | ||||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |||
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 | ||
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | ||
Malabsorption |
Intestinal malabsorption
|
0002024 | ||
Microdontia |
Decreased width of tooth
|
0000691 | ||
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 | ||
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 | ||
Retinopathy |
Noninflammatory retina disease
|
0000488 | ||
Sensorineural hearing impairment | 0000407 | |||
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 | ||
Thick nasal alae | 0009928 | |||
Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ] |
0000687 | ||
5%-29% of people have these symptoms | ||||
Abnormal aortic valve morphology | 0001646 | |||
Abnormal tendon morphology |
Abnormal shape of tendon
|
0100261 | ||
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 | ||
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 | ||
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 | ||
Hydrocephalus |
Too much cerebrospinal fluid in the brain
|
0000238 | ||
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 | ||
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 | ||
Optic atrophy | 0000648 | |||
Spinal canal stenosis |
Narrow spinal canal
|
0003416 | ||
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 | ||
Percent of people who have these symptoms is not available through HPO | ||||
Aortic regurgitation |
CauseDiagnosisMaking 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. Newborn Screening
Treatment Management of mucopolysaccharidosis type I (MPS I) requires a multidisciplinary team given the wide range of symptoms. This team may include: primary care; cardiology; pulmonology; gastroenterology; neurology; ear, nose, and throat specialists; audiology; ophthalmology; orthopedics;
The two main treatment options for MPS I include hematopoietic stem cell transplant (HSCT) and enzyme replacement therapy (ERT). Both of these treatments work by replacing the missing IDUA HSCT is considered standard of care for individuals with severe MPS I; however, its success is dependent on timing of treatment. It is typically recommended that HSCT occur early in the disease process, prior to two years of age. Studies have shown that when successful, HSCT can improve facial, auditory, and cardiac manifestations. The effect on intellectual development is unclear with some studies suggesting an improvement, while others report a slowing of cognitive decline.[1][4] A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. Treatment with laronidase can improve problems with breathing, growth, the bones, joints and heart. However, this treatment is not expected to treat problems with mental development because laronidase cannot cross the blood-brain barrier.[1][4] 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
Selected Full-Text Journal Articles
References
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