autosomal semi-dominant severe lipodystrophic laminopathy
ORPHA: 280365
Overview
human disease
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 autosomal semi-dominant severe lipodystrophic laminopathy, sourced from HPO and Orphanet clinical annotations.
MicrognathiaNarrow nasal ridgeDiabetes mellitusInsulin resistanceXanthomatosisHypertriglyceridemiaPremature graying of hairHepatomegalySkeletal muscle hypertrophyMinimal subcutaneous fatReduced subcutaneous adipose tissueProgeroid facial appearanceAplasia/Hypoplasia of the skinLipodystrophyLipoatrophyPolycystic ovariesIncreased facial adipose tissueRound faceIncreased adipose tissue around the neckSecondary amenorrheaAcanthosis nigricansThin skinHepatic steatosisAbnormal nail morphologyAcroosteolysis of distal phalanges (feet)AtherosclerosisDecreased HDL cholesterol concentrationDecreased serum leptinLoss of subcutaneous adipose tissue in limbsPrecocious atherosclerosisAccelerated atherosclerosisAdvanced eruption of teethMuscle hypertrophy of the lower extremitiesIncreased intraabdominal fatOsteolytic defects of the phalanges of the handDecreased adiponectin levelProximal upper limb muscle hypertrophyCongestive heart failureHypertrophic cardiomyopathyCoronary artery atherosclerosisPancreatitisSplenomegalyGeneralized hirsutismMyopathyMyalgiaSupraventricular arrhythmiaAbnormal atrioventricular conductionDysmenorrheaVentricular arrhythmia
Classification & Codes
Orphanet Code
ORPHA:280365autosomal semi-dominant severe lipodystrophic laminopathy
| Orphanet | ORPHA:280365 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO