Rare Nephrology News
Advertisement
Disease Profile
Congenital generalized lipodystrophy type 1
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
Berardinelli-Seip congenital lipodystrophy type 1; BSCL1; AGPAT2-related Brunzell syndrome
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Disease of the heart muscle
|
0001638 | |
Percent of people who have these symptoms is not available through HPO | ||
Darkened and thickened skin
|
0000956 | |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Acute pancreatitis |
Acute pancreatic inflammation
|
0001735 |
0000007 | ||
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
Cystic angiomatosis of bone | 0002833 | |
Decreased serum leptin | 0003292 | |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Generalized muscular appearance from birth | 0003716 | |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hirsutism |
Excessive hairiness
|
0001007 |
Hyperinsulinemia | 0000842 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Insulin-resistant |
0000877 | |
Labial hypertrophy |
Enlargement of the labia
Enlargement of the vaginal lips
[ more ] |
0000065 |
Large hands |
large hand
|
0001176 |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ] |
0001833 |
Macrotia |
Large ears
|
0000400 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Nephrolithiasis |
Kidney stones
|
0000787 |
Polycystic ovaries | 0000147 | |
Polyphagia |
Voracious appetite
|
0002591 |
Prominent umbilicus |
Prominent belly button
Prominent navel
[ more ] |
0001544 |
Reduced intraabdominal adipose |
0025128 | |
Reduced intrathoracic adipose tissue | 0003809 | |
Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
Splenomegaly |
Increased spleen size
|
0001744 |
Tall stature |
Increased body height
|
0000098 |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
Umbilical hernia | 0001537 |
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
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
Congenital generalized lipodystrophy type 1 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.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- metreleptin(Brand name: Myalept) Manufactured by Amylin Pharmaceuticals, LLC
FDA-approved indication: Adjunct to diet as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy.
National Library of Medicine Drug Information Portal
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
-
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.
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital generalized lipodystrophy type 1. Click on the link to view a sample search on this topic.