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GTR Home > Conditions/Phenotypes > PPARG-related familial partial lipodystrophy

Summary

A rare familial partial lipodystrophy with characteristics of 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 xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25. [from SNOMEDCT_US]

Available tests

46 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CIMT1, GLM1, NR1C3, PPARG1, PPARG2, PPARG5, PPARgamma, PPARG
    Summary: peroxisome proliferator activated receptor gamma

Clinical features

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