Rare Nephrology News
Disease Profile
Congenital generalized lipodystrophy type 4
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.
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Age of onset
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ICD-10
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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)
Lipodystrophy, congenital generalized, type 4; CGL4; Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Heart 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
|
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Hirsutism |
Excessive hairiness
|
0001007 |
| Percent of people who have these symptoms is not available through HPO | ||
|
Darkened and thickened skin
|
0000956 | |
| Atrial fibrillation |
Quivering upper heart chambers resulting in irregular heartbeat
|
0005110 |
| 0000007 | ||
| Bradycardia |
Slow heartbeats
|
0001662 |
| Constipation | 0002019 | |
| Decreased circulating IgA level | 0002720 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
| Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Generalized muscle weakness | 0003324 | |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperinsulinemia | 0000842 | |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
| Ileus | 0002595 | |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
| Insulin resistance |
Body fails to respond to insulin
|
0000855 |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Muscle mounding | 0003719 | |
| Muscle stiffness | 0003552 | |
| Muscular dystrophy | 0003560 | |
| Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
| Osteopenia | 0000938 | |
| 0000939 | ||
| Prolonged QT interval | 0001657 | |
| Prominent umbilicus |
Prominent belly button
Prominent navel
[ more ] |
0001544 |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| Pyloric stenosis | 0002021 | |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
| 0002650 | ||
| Skeletal muscle hypertrophy |
Increased skeletal muscle cells
|
0003712 |
| Spinal rigidity |
Reduced spine movement
|
0003306 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Tachycardia |
Fast heart rate
Heart racing
Racing heart
[ more ] |
0001649 |
| Vascular dilatation |
Wider than typical opening or gap
|
0002617 |
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
- Orphanet lists international laboratories offering diagnostic testing for this condition.
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 4 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
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.
- 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 Congenital generalized lipodystrophy type 4. Click on the link to view a sample search on this topic.