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||
|80%-99% of people have these symptoms|
Loss of fat tissue in localized area
|30%-79% of people have these symptoms|
Autoimmune disorder[ more ]
|Decreased serum complement C3||0005421|
Hearing defect[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
High lymphocyte count
Muscle tissue disease
|Progeroid facial appearance||
Premature aged appearance
|5%-29% of people have these symptoms|
Excessive hairiness over body
Fatty infiltration of liver
Fatty liver[ more ]
Decreased immune function
Body fails to respond to insulin
Small amount of blood in urine
High urine protein levels
Protein in urine[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal circulating lipid concentration||0003119|
Blood in urine
Signs and symptoms begin before 15 years of age
|Loss of subcutaneous adipose
Loss of fat tissue below the skin from upper limbs
|Loss of truncal subcutaneous adipose tissue||
Loss of fat tissue in trunk
|Progressive loss of facial adipose tissue||
Facial fat wasting
Progressive loss of facial fat[ more ]
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
No previous family history
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
Differential diagnosis includes anorexia nervosa, cachexia, starvation, diencephalic syndrome, multiple symmetric lipomatosis and other rare progeroid syndromes and disorders affecting growth and development. In addition, other forms of acquired lipodystrophy observed may be associated with a broad spectrum of autoimmune diseases, including systemic lupus erythematosus, juvenile dermatomyositis, celiac disease, or pernicious anemia and vasculitis.
Visit the Orphanet disease page for more information.
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.
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.
NORD RareLaunch® Workshops
December 1, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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I want to know if this syndrome is dangerous for my life, is there any possibility that I will die young? Can you help me? I want to know more about my disease. Can I cure it? See answer