congenital generalized lipodystrophy type 4
Findings
No curated finding names congenital generalized lipodystrophy type 4 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 CAVIN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013225), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 5 of 5 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 5 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 5 of 5 reported patients
- LipodystrophyHPOHP:0009125
- 5 of 5 reported patients
- Muscle moundingHPOHP:0003719
- 3 of 3 reported patients
- Skeletal muscle hypertrophyHPOHP:0003712
- 3 of 4 reported patients
- HepatomegalyHPO
Show the remaining 11
- HyperinsulinemiaHPOHP:0000842
- 2 of 5 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 2 of 5 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 2 of 5 reported patients
- ScoliosisHPOHP:0002650
- 2 of 5 reported patients
- Hepatic steatosisHPOHP:0001397
- 1 of 3 reported patients
- MyalgiaHPOHP:0003326
- 1 of 4 reported patients
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.
- CAVIN1HGNC:9688
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
7 names
Resolves to: congenital generalized lipodystrophy type 4
- Also called
- BSCL4CAVIN1 congenital generalised lipodystrophy (disease)CAVIN1 congenital generalized lipodystrophy (disease)CGL4congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1GCL4