familial partial lipodystrophy
MONDO:0020088Mondo
Findings
No curated finding names familial partial lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.
Definition from the Mondo Disease Ontology (MONDO:0020088), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (10)
- AKT2-related familial partial lipodystrophy
- autosomal semi-dominant severe lipodystrophic laminopathy
- CIDEC-related familial partial lipodystrophy
- familial partial lipodystrophy, Dunnigan type
- familial partial lipodystrophy, Kobberling type
- LIPE-related familial partial lipodystrophy
- lipodystrophy, familial partial, type 8
- lipodystrophy, familial partial, type 9
- PLIN1-related familial partial lipodystrophy
- PPARG-related familial partial lipodystrophy
Other names
4 names
Resolves to: familial partial lipodystrophy
- Also called
- congenital partial lipodystrophyFPLDgenetic partial lipodystrophylipodystrophy, familial partial