lipodystrophy
MONDO:0006573Mondo
Findings
No curated finding names lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.
Definition from the Mondo Disease Ontology (MONDO:0006573), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- LipodystrophyMondoHP:0009125
Genes
9 genes
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 · ClinGen · Autosomal recessive · 2024
- BSCL2HGNC:15832
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- CAVIN1HGNC:9688
- Definitive · ClinGen · Autosomal recessive · 2025
- LMNAHGNC:6636
- Definitive · ClinGen · Semidominant · 2024
- PPARGHGNC:9236
- Definitive · ClinGen · Semidominant · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: lipodystrophy
- Also called
- lipodsystrophic syndromelipodsystrophic syndromeslipodystrophy (disease)