Familial partial lipodystrophy, Köbberling type

Disease Export to PDF
Name:
Familial partial lipodystrophy, Köbberling type
Description:
Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) 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.
ORPHAcode:
79084
Synonyms:
FPLD1
Familial partial lipodystrophy type 1
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14