congenital generalized lipodystrophy type 2
Findings
No curated finding names congenital generalized lipodystrophy type 2 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 BSCL2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010020), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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
- 4 of 4 reported patients
- Elevated hemoglobin A1cHPOHP:0040217
- 4 of 4 reported patients
- Reduced subcutaneous adipose tissueHPOHP:0003758
- 4 of 4 reported patients · Congenital onset
- Type II diabetes mellitusHPOHP:0005978
- 3 of 4 reported patients
- Hepatic steatosisHPOHP:0001397
- 2 of 4 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 2 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.
- BSCL2HGNC:15832
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
5 names
Resolves to: congenital generalized lipodystrophy type 2
- Also called
- BSCL2 congenital generalised lipodystrophy (disease)BSCL2 congenital generalized lipodystrophy (disease)CGL2congenital generalised lipodystrophy (disease) caused by mutation in BSCL2congenital generalized lipodystrophy (disease) caused by mutation in BSCL2