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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease c syndrome
Comorbidity C0023787|lipodystrophy
Sentences 3
PubMedID- 22584706 Individuals with dominant-negative pparγ gene mutations manifest a syndrome that combines lipodystrophy with features of the metabolic syndrome, including insulin resistance, type 2 diabetes, hepatic steatosis, dyslipidemia, hypertension and (in women) polycystic ovary syndrome.
PubMedID- 20713602 Deficiencies in adipose tissue, or lipodystrophy, are normally associated with a metabolic syndrome that resembles obesity due to an inability to process fat in the diet (reue and phan, 2006).
PubMedID- 25005176 Thus, isolated mitochondrial dysfunction in adipose tissue can lead a syndrome of lipodystrophy with metabolic syndrome and cardiovascular complications.

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