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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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
Hypertension
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 diabetes mellitus
Insulin resistant diabetes
Insulin-resistant diabetes

[ more ]

0000831
Loss of subcutaneous adipose tissue in limbs
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
Acanthosis nigricans
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 cardiomyopathy
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
Autosomal dominant inheritance
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.