familial partial lipodystrophy type 6
ORPHA: 435660
Overview
familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the LIPE gene on chromosome 19q13
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 6, sourced from HPO and Orphanet clinical annotations.
Increased adipose tissue around the neckInsulin resistanceLoss of subcutaneous adipose tissue in limbsLipodystrophyPolycystic ovariesInsulin-resistant diabetes mellitusOligomenorrheaAcanthosis nigricansHepatic steatosisHypertriglyceridemiaHepatomegalyElevated circulating creatine kinase concentrationDecreased serum leptinSkeletal muscle hypertrophyIncreased intraabdominal fatLoss of gluteal subcutaneous adipose tissueAbnormal labia majora morphologyDecreased adiponectin levelProximal lower limb muscle weaknessProximal upper limb muscle weakness
Classification & Codes
Orphanet Code
ORPHA:435660familial partial lipodystrophy type 6
| Orphanet | ORPHA:435660 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO