Rare Nephrology News
Disease Profile
Barraquer-Simons syndrome
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
Childhood
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)
APL; Lipodystrophy partial acquired; Lipodystrophy cephalothoracic type;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases
Summary
Barraquer-Simons
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 | ||
| Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
| 30%-79% of people have these symptoms | ||
| Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
| Decreased serum complement C3 | 0005421 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Lymphocytosis |
High lymphocyte count
|
0100827 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Progeroid facial appearance |
Premature aged appearance
|
0005328 |
| 0001250 | ||
| 5%-29% of people have these symptoms | ||
| Arthralgia |
Joint pain
|
0002829 |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Glomerulopathy | 0100820 | |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
|
Decreased immune function
|
0002721 | |
| Insulin resistance |
Body fails to respond to insulin
|
0000855 |
| Microscopic hematuria |
Small amount of blood in urine
|
0002907 |
|
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal circulating lipid concentration | 0003119 | |
| 0000006 | ||
| 0000819 | ||
| Hematuria |
Blood in urine
|
0000790 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
| Loss of subcutaneous adipose |
Loss of fat tissue below the skin from upper limbs
|
0009056 |
| Loss of truncal subcutaneous adipose tissue |
Loss of fat tissue in trunk
|
0009002 |
| Membranoproliferative glomerulonephritis | 0000793 | |
| Nephrotic |
0000100 | |
| Polycystic ovaries | 0000147 | |
| Progressive loss of facial adipose tissue |
Facial fat wasting
Progressive loss of facial fat
[ more ] |
0009019 |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
| Sporadic |
No previous family history
|
0003745 |
Treatment
No specific diet is recommended for people with Barraquer-Simons
If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications.
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 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.
|
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
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- MedlinePlus Genetics contains information on Barraquer-Simons syndrome. 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
- 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.
- 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 Barraquer-Simons syndrome. Click on the link to view a sample search on this topic.
Diagrams/Images
- The University of Texas Southwestern Medical Center Web site provides a diagram of how Barraquer-Simons syndrome may affect the body. Click on the link above to view the illustration.
References
- Acquired: Partial Lipodystrophy (Barraquer-Simons Syndrome). The University of Texas Southwestern Medical Center at Dallas Web site. 2007; https://www.utsouthwestern.edu/media/files/2400/Partial-Lipo-Barraquer-Simons-Syndrome.pdf. Accessed 7/29/2011.
- George T Griffing. Acquired Partial Lipodystrophy. Medscape Reference. May 11, 2012; https://emedicine.medscape.com/article/123039-overview. Accessed 12/13/2013.
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