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Disease Profile
Hurler syndrome
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
Infancy
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)
Mucopolysaccharidosis Ih ; MPS1-H; MPS1H;
Categories
Congenital and Genetic Diseases; Eye diseases; Heart Diseases;
Summary
Orpha Number: 93473
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 | ||
Abnormal heart valve morphology | 0001654 | |
Abnormal vertebral morphology | 0003468 | |
Abnormality of the tonsils | 0100765 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Disease of the heart muscle
|
0001638 | |
Cerebral palsy | 0100021 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
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 |
Frontal bossing | 0002007 | |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Global |
0001263 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hernia | 0100790 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Large face |
Big face
|
0100729 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Mucopolysacchariduria | 0008155 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Rhinitis |
Nasal inflammation
|
0012384 |
Short neck |
Decreased length of neck
|
0000470 |
Skeletal dysplasia | 0002652 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
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 |
30%-79% of people have these symptoms | ||
Abnormal clavicle morphology |
Abnormal collarbone
|
0000889 |
Abnormal diaphysis morphology |
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs
[ more ] |
0000940 |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Chronic diarrhea | 0002028 | |
Corneal opacity | 0007957 | |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Depressivity |
Depression
|
0000716 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
0000501 | ||
Hearing impairment |
Hearing defect
Deafness
[ more ] |
0000365 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
0000822 | ||
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Narrow pelvis bone | 0003275 | |
Recurrent respiratory infections |
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
Frequent respiratory infections
[ more ] |
0002205 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
0002650 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
5%-29% of people have these symptoms | ||
Abnormal nerve conduction velocity | 0040129 | |
Abnormal pyramidal sign | 0007256 | |
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
Angina pectoris | 0001681 | |
Endocardial fibroelastosis | 0001706 | |
Retinal degeneration |
Retina degeneration
|
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
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. In-Depth Information
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