congenital generalized lipodystrophy type 1
Findings
No curated finding names congenital generalized lipodystrophy type 1 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 AGPAT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012071), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset · Childhood onset
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.
- Decreased serum leptinHPOHP:0003292
- 18 of 18 reported patients
- HepatomegalyHPOHP:0002240
- 8 of 8 reported patients
- Acanthosis nigricansHPOHP:0000956
- 7 of 8 reported patients
- Diabetes mellitusHPOHP:0000819
- 17 of 28 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 6 reported patients
- HypertriglyceridemiaHPOHP:0002155
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.
- AGPAT2HGNC:325
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: congenital generalized lipodystrophy type 1
- Also called
- AGPAT2 congenital generalised lipodystrophy (disease)AGPAT2 congenital generalized lipodystrophy (disease)Berardinelli-Seip congenital lipodystrophy, type 1BSCL1CGL1congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2