PLIN1-related familial partial lipodystrophy

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Synonyms: FPLD4 | PLIN1-related FPLD

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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PLIN1-related familial partial lipodystrophy?

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Clinical Trials

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