familial partial lipodystrophy type 2
ORPHA: 2348
Overview
familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has material basis in mutation in the LMNA gene on chromosome 1q21
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 2, sourced from HPO and Orphanet clinical annotations.
Polycystic ovariesRound faceDiabetes mellitusInsulin resistanceSecondary amenorrheaAcanthosis nigricansThin skinXanthomatosisHepatic steatosisAbnormal nail morphologyCongestive heart failureHypertrophic cardiomyopathyCoronary artery atherosclerosisPancreatitisSplenomegalyHypertriglyceridemiaGeneralized hirsutismHepatomegalyAtherosclerosisMyopathyMyalgiaLoss of subcutaneous adipose tissue in limbsSkeletal muscle hypertrophyAbnormality of complement systemAdvanced eruption of teethCranial nerve paralysisAplasia/Hypoplasia of the skinLipodystrophyAbnormality of skeletal muscle fiber sizeLipoatrophyDysmenorrheaCellulitisGlomerulopathy
Classification & Codes
Orphanet Code
ORPHA:2348familial partial lipodystrophy type 2
| Orphanet | ORPHA:2348 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO