Orpha Number: 77261
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 | ||
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
Bone pain | 0002653 | |
0001298 | ||
Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ]
|
0002659 |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Osteolysis |
Breakdown of bone
|
0002797 |
Splenomegaly |
Increased spleen size
|
0001744 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
30%-79% of people have these symptoms | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
0001251 | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Generalized myoclonic |
0002123 | |
Hydrops fetalis | 0001789 | |
Increased circulating |
0010702 | |
Pancytopenia |
Low blood cell count
|
0001876 |
Low platelet count
|
0001873 | |
5%-29% of people have these symptoms | ||
Abnormal myocardium morphology | 0001637 | |
Abnormal pulmonary Interstitial morphology |
Abnormality in area between air sacs in lung
|
0006530 |
Aortic valve calcification | 0004380 | |
Hematuria |
Blood in urine
|
0000790 |
Mitral valve calcification | 0004382 | |
Pericardial effusion |
Fluid around heart
|
0001698 |
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Percent of people who have these symptoms is not available through HPO | ||
Adult onset |
Symptoms begin in adulthood
|
0003581 |
0000007 | ||
Decreased beta-glucocerebrosidase level | 0003656 | |
Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
Depressivity |
Depression
|
0000716 |
Horizontal supranuclear gaze palsy | 0007817 | |
Motor delay | 0001270 | |
Myoclonus | 0001336 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
Progressive neurologic deterioration |
Worsening neurological symptoms
|
0002344 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Spastic paraparesis | 0002313 | |
Vascular calcification | 0004934 |
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.
The 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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Rare Disease Day at NIH 2021
March 1, 2021
Gaucher Disease, How a Rare Disease Provides a Window into Common Neurodegenerative Disorders
December 1, 2020
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