familial partial lipodystrophy type 5
ORPHA: 435651
Overview
familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the CIDEC 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 5, sourced from HPO and Orphanet clinical annotations.
Loss of subcutaneous adipose tissue in limbsLipodystrophyPolycystic ovariesInsulin-resistant diabetes mellitusOligomenorrheaAcanthosis nigricansHepatic steatosisPancreatitisHypertriglyceridemiaHepatomegalyDecreased serum leptinSkeletal muscle hypertrophyCalf muscle hypertrophyLoss of gluteal subcutaneous adipose tissueDecreased adiponectin level
Classification & Codes
Orphanet Code
ORPHA:435651familial partial lipodystrophy type 5
| Orphanet | ORPHA:435651 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO