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Familial partial lipodystrophy, Kobberling type
rareFamilial 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.
- Identifiers
- MONDO:0012072 OMIM:608600Orphanet:79084
- Causal genes
- NOTCH3
- Part of
- Familial partial lipodystrophy
- Also known as
- familial partial lipodystrophy type 1 · familial partial lipodystrophy type Köbberling · FPLD1 · lipodystrophy, familial partial, type 1
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