familial partial lipodystrophy

fa·mil·i·al partial lip·o·dys·tro·phy

[MIM*151660]
a disorder characterized by symmetric truncal and extremity lipodystrophy. Findings include full and rounded face, xanthomata, acanthosis nigricans, and insulin-resistant hyperglycemia. In affected patients, fat accumulates around neck, shoulders, and genitalia.

fa·mil·i·al par·tial lip·o·dys·tro·phy

(fă-mil'ē-ăl pahr'shăl lip'ō-dis'trŏ-fē)
Characterized by symmetric lipoatrophy of the trunk and limbs but the face is spared; with full rounded face, xanthomata, acanthosis nigricans, and insulin-resistant hyperglycemia; fat accumulates around the neck, shoulders, and genitalia.
Synonym(s): Kobberling-Dunnigan syndrome.
References in periodicals archive ?
Akcea's most advanced programme, volanesorsen, is in Phase 3 development to treat patients with either familial chylomicronemia syndrome or familial partial lipodystrophy, two orphan lipid disorders that are characterized by extremely high triglycerides and ApoC-III.
Mutations in LMNA cause familial partial lipodystrophy (FPLD), a genetic disorder that leads to unbalanced body fat distribution (Owen et al.
2001) and can cause an inherited disorder called familial partial lipodystrophy (FPLD), which is characterized by abnormal body fat distribution.
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.
Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene.
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.
In 1998, researchers localized a human gene that caused familial partial lipodystrophy, called Dunnigan type (FPLD).
In 2002, a mutation called PPAR-gamma was linked to another type of familial partial lipodystrophy.
In people with Dunnigan-type familial partial lipodystrophy, fat melts from arms, legs, and buttocks while depositing in the head, neck, and abdomen.
Findings from the first poster titled, "Metabolic Effects of Metreleptin Treatment in Familial Partial Lipodystrophy (FPL)," included data from an ongoing expanded access protocol of metreleptin administration in patients with rare forms of inherited or acquired lipodystrophy.

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