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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormality of the liver |
Abnormal liver
Liver abnormality
[ more ]
|
0001392 |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Blurred vision | 0000622 | |
| Corneal opacity | 0007957 | |
| Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ]
|
0003233 |
| EMG abnormality | 0003457 | |
| Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
| Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Xanthomatosis |
Yellow bumps of fatty deposits on skin
|
0000991 |
| 1%-4% of people have these symptoms | ||
| Premature coronary artery atherosclerosis |
Premature coronary artery disease
|
0005181 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Myocardial infarction |
Heart attack
|
0001658 |
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.
Related 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.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The differential diagnosis includes Tangier disease, LCAT deficiency (see these terms) and secondary causes of extremely low HDL cholesterol levels that include medications (androgenic steroids, paradoxical response to fibrates) and malignancies.
Visit the
Orphanet disease page
for more information.
|
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.
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