Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital generalized lipodystrophy type 3 (BSCL3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital generalized lipodystrophy type 3

MONDO:0012923

Also known as:BSCL3Berardinelli-Seip congenital lipodystrophy type 3CAV1 congenital generalised lipodystrophy (disease)

Overview

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.

GeneticsAutosomal recessive · CAV1 (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, and Short stature and 12 more.

Organ System	Phenotype Count	Example Features
Digestive system	4	Hepatic steatosis, Enlarged liver (hepatomegaly), Hepatosplenomegaly

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CAV1 encodes caveolin 1 (178 aa). May act as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Highest expression in Cells Cultured fibroblasts (889.9 TPM) and Adipose Subcutaneous (543.3 TPM).

Congenital generalized lipodystrophy type 3 is caused by mutations in the CAV1 gene on chromosome 7.

The CAV1 protein participates in CAV1 gene expression is stimulated by FOXO1,FOXO3, CACNA1D:CACNA2D2:CACNB2 (Cav1.3 channel) transports Ca2+ into the cytosol of an inner hair cell, and CDC42 GDIs block activation of CDC42 pathways.

CAV1 is classified as a druggable target (Kinase and Transporter categories) with score 13.1.

Diagnosis

Genetic testing for CAV1 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital generalized lipodystrophy type 3.

10 publications have been identified in PubMed for congenital generalized lipodystrophy type 3. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (30%), and Basic Science / Preclinical (30%).

Research Type	Count	% of Total
Research summaries	4	40%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:26 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612526

GARD

Genetic and Rare Diseases Info Center

GARD:13389

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

congenital generalized lipodystrophy type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital generalized lipodystrophy type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications