LIPE-related familial partial lipodystrophy

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Synonyms: FPLD6 | LIPE-related FPLD

A rare genetic lipodystrophy characterized by abnormal subcutaneous fat distribution resulting in excess accumulation of fat in the face neck shoulders axillae trunk and pubic region and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy insulin resistance diabetes hypertriglyceridemia hepatic steatosis and vitiligo.

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 July 2024

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LIPE-related familial partial lipodystrophy?

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