Familial partial lipodystrophy
Encyclopedia
Familial partial lipodystrophy (also known as "Köbberling–Dunnigan syndrome") is an autosomal dominant skin condition characterized by the loss of subcutaneous fat.
Type 1 is believed to be underdiagnosed.
| OMIM | Name | Locus |
|---|---|---|
| FPLD1 (Kobberling-type, loss from extremities) | ? | |
| FPLD2 (Dunnigan-type Dunnigan familial partial lipodystrophy Dunnigan-type familial partial lipodystrophy, abbreviated as , is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region... , loss from limbs and trunk) |
LMNA LMNA Lamin A/C also known as LMNA is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins.-Function:... ; 1q21.2 |
|
| FPLD3 | PPARG; 7q11.23-q21.11, 3p25 |
Type 1 is believed to be underdiagnosed.