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PLIN1-related familial partial lipodystrophy
Disease 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.
ORPHA:280356
Classification level: DisorderA summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2016) - J Clin Endocrinol Metab


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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