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 |
|---|---|---|
| 100% of people have these symptoms | ||
| 0000822 | ||
| Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
| 80%-99% of people have these symptoms | ||
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
| Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ]
|
0000831 |
| Loss of subcutaneous adipose |
Loss of fat tissue below the skin in limbs
|
0003635 |
| Xanthomatosis |
Yellow bumps of fatty deposits on skin
|
0000991 |
| 30%-79% of people have these symptoms | ||
| Marked muscular hypertrophy | 0009042 | |
| Secondary amenorrhea |
Previous menstrual periods stop
|
0000869 |
| Thin skin | 0000963 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of skeletal muscle fiber size | 0012084 | |
|
Darkened and thickened skin
|
0000956 | |
| Calf muscle pseudohypertrophy | 0003707 | |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Coronary artery atherosclerosis |
Plaque build-up in arteries supplying blood to heart
|
0001677 |
| Dysmenorrhea |
Painful menstruation
|
0100607 |
| Eclampsia | 0100601 | |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Hyperuricemia |
High blood uric acid level
|
0002149 |
| Loss of facial adipose tissue |
Decreased amount of facial fat
Loss of facial fat
[ more ]
|
0000292 |
| Maternal diabetes |
gestational diabetes
|
0009800 |
| Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Oligomenorrhea |
Light or infrequent menstrual periods
|
0000876 |
| Pancreatitis |
Pancreatic inflammation
|
0001733 |
| Polycystic ovaries | 0000147 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| 1%-4% of people have these symptoms | ||
| Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
| Primary amenorrhea | 0000786 | |
| Prominent veins on trunk | 0007457 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the face |
Abnormal face
Facial abnormality
[ more ]
|
0000271 |
| Abnormality of the musculature |
Muscular abnormality
|
0003011 |
| Abnormality of the neck | 0000464 | |
| 0000006 | ||
| Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ]
|
0003233 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| Hyperglycemia |
High blood sugar
|
0003074 |
| Hyperinsulinemia | 0000842 | |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Loss of gluteal subcutaneous adipose tissue |
Loss of fat tissue below the skin in gluts
|
0009017 |
| Preeclampsia | 0100602 | |
| Prominent superficial veins |
Prominent veins
|
0001015 |
| Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
