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PPARG-related familial partial lipodystrophy
Disease definition
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.
ORPHA:79083
Classification level: DisorderDetailed information
Professionals
- Clinical practice guidelines
- English (2016)
- Guidance for genetic testing
- English (2016)
Additional information
Further information on this disease
Patient-centred resources for this disease
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Specialised Social Services
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