Familial partial lipodystrophy, Köbberling type

Orpha code: 79084OMIM code: 608600

Definition

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.

Disease data
Classification

Disease

Synonyms
FPLD1
FplD1
Rodzinna lipodystrofia częściowa typu 1
Familial partial lipodystrophy type 1
ORPHA code
79084
OMIM code
608600
ICD10 code
E88.1
ICD11 code
-

No additional description.

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