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Disease Profile
Acquired generalized lipodystrophy
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.
Unknown
Age of onset
All ages
ICD-10
E88.1
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)
Lawrence syndrome; Lawrence-Seip syndrome; Acquired lipoatrophic diabetes
Categories
Endocrine Diseases; Skin Diseases
Summary
Orpha Number: 79086
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
|
---|---|---|
100% of people have these symptoms | ||
Generalized lipodystrophy | 0009064 | |
80%-99% of people have these symptoms | ||
Hyperinsulinemia | 0000842 | |
30%-79% of people have these symptoms | ||
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
Calf muscle pseudohypertrophy | 0003707 | |
Disease of the heart muscle
|
0001638 | |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] |
0000831 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
5%-29% of people have these symptoms | ||
Abnormality of complement system | 0005339 | |
Darkened and thickened skin
|
0000956 | |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Acute pancreatitis |
Acute pancreatic inflammation
|
0001735 |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Generalized hyperpigmentation | 0007440 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
0000822 | ||
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Myopathy |
Muscle tissue disease
|
0003198 |
Panniculitis |
Inflammation of fat tissue
|
0012490 |
Polycystic ovaries | 0000147 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
1%-4% of people have these symptoms | ||
Astrocytoma | 0009592 | |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
Unicameral bone cyst | 0012064 |
Treatment
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.
Management Guidelines
- The NORD Physician Guide for Acquired generalized lipodystrophy was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.
Organizations
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.
Organizations Supporting this Disease
-
Lipodystrophy United
22 Frances Road
Los Lunas, NM 87031
Telephone: (209) 845-7273
E-mail: [email protected]
Website: https://www.lipodystrophyunited.org
Facebook: https://www.facebook.com/LipodystrophyUnited/
Learn more
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.