PLIN1-related familial partial lipodystrophy

Orpha code: 280356OMIM code: 613877

Definition

A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.

Disease data
Classification

Disease

Synonyms
FPLD4
FplD zależna od plIN1
FplD4
PLIN1-related FPLD
ORPHA code
280356
OMIM code
613877
ICD10 code
E88.1
ICD11 code
-

No additional description.

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