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Disease Profile
Familial partial lipodystrophy type 2
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
Elderly
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)
FPLD2; Lipodystrophy, familial partial, Dunnigan type; Lipodystrophy, familial, of limbs and lower trunk;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders;
Summary
FPLD2 is caused by
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
|
---|---|---|
80%-99% of people have these symptoms | ||
0000819 | ||
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Skeletal muscle hypertrophy |
Increased skeletal muscle cells
|
0003712 |
Xanthomatosis |
Yellow bumps of fatty deposits on skin
|
0000991 |
30%-79% of people have these symptoms | ||
Abnormality of the nail | 0001597 | |
Acute pancreatitis |
Acute pancreatic inflammation
|
0001735 |
Advanced eruption of teeth |
Early eruption of teeth
|
0006288 |
Loss of subcutaneous adipose |
Loss of fat tissue below the skin in limbs
|
0003635 |
Secondary amenorrhea |
Previous menstrual periods stop
|
0000869 |
Thin skin | 0000963 | |
5%-29% of people have these symptoms | ||
Abnormality of complement system | 0005339 | |
Abnormality of skeletal muscle fiber size | 0012084 | |
Darkened and thickened skin
|
0000956 | |
Cellulitis |
Bacterial infection of skin
Skin infection
[ more ] |
0100658 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Coronary artery atherosclerosis |
Plaque build-up in arteries supplying blood to heart
|
0001677 |
Cranial nerve paralysis | 0006824 | |
Dysmenorrhea |
Painful menstruation
|
0100607 |
Eclampsia | 0100601 | |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Glomerulopathy | 0100820 | |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Myopathy |
Muscle tissue disease
|
0003198 |
Pancreatitis |
Pancreatic inflammation
|
0001733 |
Polycystic ovaries | 0000147 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Percent of people who have these symptoms is not available through HPO | ||
Adipose tissue loss |
Loss of fat tissue
|
0008887 |
Atherosclerosis |
Narrowing and hardening of arteries
|
0002621 |
0000006 | ||
Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ] |
0003233 |
Enlarged peripheral nerve | 0012645 | |
Hirsutism |
Excessive hairiness
|
0001007 |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Hyperglycemia |
High blood sugar
|
0003074 |
Hyperinsulinemia | 0000842 | |
0000822 | ||
Increased adipose tissue around the neck |
Increased fat around the neck
|
0000468 |
Increased facial adipose tissue |
Increased amount of facial fat
|
0000287 |
Increased intraabdominal fat | 0008993 | |
Increased intramuscular fat | 0008985 | |
Insulin-resistant diabetes mellitus |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] |
0000831 |
Labial pseudohypertrophy | 0008739 | |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Loss of truncal subcutaneous adipose tissue |
Loss of fat tissue in trunk
|
0009002 |
Prominent superficial veins |
Prominent veins
|
0001015 |
Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Management Guidelines
- The NORD Physician Guide for Familial partial lipodystrophy type 2 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.
Related diseases
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 diagnoses include other forms of FLPD as well as Cushing syndrome (see these terms), type 2 diabetes, metabolic syndrome and acquired lipodystrophy.
Visit the Orphanet disease page for more information.
|
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/ -
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
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 type 2. This website is maintained by the National Library of Medicine.
- 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
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Familial partial lipodystrophy type 2. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Krawiec P, Melges B, Pac-Kozuchowska E, Mroczkowska-Juchkiewicz A, Czerska K. Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. BMC Pediatr. 2016 Mar 14; 16:38.
- Belo SP, Magalhaes AC, Freitas P, Carvalho DM. Familial partial lipodystrophy, Dunnigan variety challenges for patient care during pregnancy: a case report. BMC Res Notes. 2015 Apr 11; 8:140.
- Vadrot N, Duband-Goulet I, Cabet E, Attanda W, Barateau A, Vicart P, Gerbal F, Briand N, Vigouroux C, Oldenburg AR, Lund EG, Collas P, Buendina B. The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2015 Apr 1; 24(7):2096-109.
- Diker-Cohen T, Cochran E, Gorden P, Brown RJ. Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. J Clin Endocrinol Metab. 2015 May; 100(5):1802-10.
References
- Mantzoros C. Lipodystrophic syndromes. UpToDate. Waltham, MA: UpToDate; September 14, 2017; https://www.uptodate.com/contents/lipodystrophic-syndromes.
- Vigouroux C. Familial partial lipodystrophy, Dunnigan type. Orphanet. February 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348.
- Garg A. Familial Partial Lipodystrophy. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/.
- LMNA. Genetics Home Reference (GHR). August 2013; https://ghr.nlm.nih.gov/gene/LMNA.
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