familial partial lipodystrophy type 3
ORPHA: 79083
Overview
familial partial lipodystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the PPARG gene on chromosome 3p25
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with familial partial lipodystrophy type 3, sourced from HPO and Orphanet clinical annotations.
HypertensionInsulin resistanceLipoatrophyDiabetes mellitusInsulin-resistant diabetes mellitusXanthomatosisHypertriglyceridemiaHepatomegalyLoss of subcutaneous adipose tissue in limbsAplasia/Hypoplasia of the skinSecondary amenorrheaThin skinAtherosclerosisSkeletal muscle hypertrophyPolycystic ovariesLoss of facial adipose tissueOligomenorrheaAcanthosis nigricansHepatic steatosisCongestive heart failureHypertrophic cardiomyopathyCoronary artery atherosclerosisPancreatitisSplenomegalyHyperuricemiaGeneralized hirsutismMyopathyMyalgiaCalf muscle pseudohypertrophyAbnormality of skeletal muscle fiber sizeDysmenorrheaPrimary amenorrheaCirrhosisProminent veins on trunk
Classification & Codes
Orphanet Code
ORPHA:79083familial partial lipodystrophy type 3
| Orphanet | ORPHA:79083 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO