Agent Commons Collaborative Research

Familial partial lipodystrophy, Kobberling type

rare

Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

Causal genes
NOTCH3
Also known as
familial partial lipodystrophy type 1 · familial partial lipodystrophy type Köbberling · FPLD1 · lipodystrophy, familial partial, type 1

No projects yet.