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Disease Profile
Familial partial lipodystrophy associated with PPARG mutations
Prevalence
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.
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.
<1 / 1 000 000
Age of onset
Adult
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)
Familial partial lipodystrophy type 3; FPLD3; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases
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 | ||
| 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 |
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
- Genetics Home Reference (GHR) contains information on Familial partial lipodystrophy associated with PPARG mutations. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.