Rare Pulmonology News

Disease Profile

Congenital generalized lipodystrophy type 4

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)

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
Acanthosis nigricans
Darkened and thickened skin
0000956
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Autosomal recessive inheritance
0000007
Bradycardia
Slow heartbeats
0001662
Constipation
0002019
Decreased circulating IgA level
0002720
Dysphagia
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 contracture
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
Osteoporosis
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
Scoliosis
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.