Overview
Congenital generalized lipodystrophy type 4 (CGL4), also known as Berardinelli-Seip congenital lipodystrophy type 4, is an extremely rare autosomal recessive disorder caused by mutations in the CAVIN1 gene (also known as PTRF, polymerase I and transcript release factor). This condition belongs to the group of congenital generalized lipodystrophies characterized by a near-complete absence of adipose (fat) tissue from birth or early infancy. The loss of fat tissue leads to a muscular appearance and is associated with severe metabolic complications including insulin resistance, diabetes mellitus, hypertriglyceridemia (high blood triglycerides), and hepatic steatosis (fatty liver). CGL4 is distinguished from other forms of congenital generalized lipodystrophy by the prominent involvement of skeletal muscle. Patients typically develop a progressive muscular dystrophy-like phenotype with elevated creatine kinase levels, muscle weakness, and cardiac abnormalities including hypertrophic cardiomyopathy and cardiac arrhythmias, which can be life-threatening. Additional features may include acanthosis nigricans (darkened, thickened skin patches), hepatomegaly (enlarged liver), and skeletal abnormalities such as atlantoaxial instability and joint contractures. Pyloric stenosis has also been reported in some affected individuals. There is currently no cure for CGL4. Management is primarily supportive and focuses on controlling metabolic complications through dietary modifications, including a low-fat diet, and pharmacological treatment of diabetes and dyslipidemia. Metreleptin (recombinant human leptin) therapy may be considered for managing metabolic abnormalities associated with leptin deficiency. Cardiac monitoring is essential due to the risk of arrhythmias and cardiomyopathy. A multidisciplinary approach involving endocrinologists, cardiologists, neurologists, and other specialists is recommended for comprehensive care.
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital generalized lipodystrophy type 4.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital generalized lipodystrophy type 4 at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital generalized lipodystrophy type 4.
Community
No community posts yet. Be the first to share your experience with Congenital generalized lipodystrophy type 4.
Start the conversation →Latest news about Congenital generalized lipodystrophy type 4
No recent news articles for Congenital generalized lipodystrophy type 4.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Congenital generalized lipodystrophy type 4
What is Congenital generalized lipodystrophy type 4?
Congenital generalized lipodystrophy type 4 (CGL4), also known as Berardinelli-Seip congenital lipodystrophy type 4, is an extremely rare autosomal recessive disorder caused by mutations in the CAVIN1 gene (also known as PTRF, polymerase I and transcript release factor). This condition belongs to the group of congenital generalized lipodystrophies characterized by a near-complete absence of adipose (fat) tissue from birth or early infancy. The loss of fat tissue leads to a muscular appearance and is associated with severe metabolic complications including insulin resistance, diabetes mellitus,
How is Congenital generalized lipodystrophy type 4 inherited?
Congenital generalized lipodystrophy type 4 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital generalized lipodystrophy type 4 typically begin?
Typical onset of Congenital generalized lipodystrophy type 4 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital generalized lipodystrophy type 4?
3 specialists and care centers treating Congenital generalized lipodystrophy type 4 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.