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Disease Profile

Congenital generalized lipodystrophy type 1

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.

Unknown

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

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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.

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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)

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
Cardiomyopathy
Disease of the heart muscle
0001638
Percent of people who have these symptoms is not available through HPO
Acanthosis nigricans
Darkened and thickened skin
0000956
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Acute pancreatitis
Acute pancreatic inflammation
0001735
Autosomal recessive inheritance
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 diabetes mellitus at puberty
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 tissue
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

        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.