congenital generalized lipodystrophy type 3
Findings
No curated finding names congenital generalized lipodystrophy type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012923), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acanthosis nigricansHPOHP:0000956
- Diabetes mellitusHPOHP:0000819
- Hepatic steatosisHPOHP:0001397
- HepatosplenomegalyHPOHP:0001433
- HirsutismHPOHP:0001007
- HypercholesterolemiaHPOHP:0003124
- HypertriglyceridemiaHPOHP:0002155
- HypocalcemiaHPOHP:0002901
- Insulin resistanceHPOHP:0000855
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CAV1HGNC:1527
- Definitive · ClinGen · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · G2P · Autosomal recessive · 2026
Where it sits
Other names
6 names
Resolves to: congenital generalized lipodystrophy type 3
- Also called
- BSCL3CAV1 congenital generalised lipodystrophy (disease)CAV1 congenital generalized lipodystrophy (disease)CGL3congenital generalised lipodystrophy (disease) caused by mutation in CAV1congenital generalized lipodystrophy (disease) caused by mutation in CAV1