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 ?
and is currently in Phase 3 clinical development for the treatment of people with familial partial lipodystrophy, or FPL.
Akcea Therapeutics Inc (NASDAQ: AKCA) - Phase 3 data for volanesorsen in familial partial lipodystrophy
However, we believe it is prudent to fully leverage our resources by exploring strategic alternatives." The Phase 2a study investigating gemcabene in Familial Partial Lipodystrophy disease recently completed enrollment.
Familial partial lipodystrophy (FPLD) is another rare form of lipodystrophy characterized by selective loss of subcutaneous adipose tissue from the arms, legs, chest, and trunk of most patients (8).
Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare genetic disease associated with loss of subcutaneous adipose tissue and accompanying metabolic involvement such as diabetes, hyperlipidemia, and hepatosteatosis.
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.
Familial Partial Lipodystrophy. The first gene identified as causative of familial partial lipodystrophy (FPL) of the Dunnigan variety was lamin A/C (LMNA) gene [125], which remains the most common cause of FPL.
Mutations in LMNA cause familial partial lipodystrophy (FPLD), a genetic disorder that leads to unbalanced body fat distribution (Owen et al., 2003).
* In 2002, a mutation called PPAR-gamma was linked to another type of familial partial lipodystrophy.
At least 6 other rare human disorders due to lamin A/C mutations (known collectively as laminopathies) besides HGS have been described so far: Emery-Dreifuss muscular dystrophy (Bonne et al., 1999), dilated cardiomyopathy (Fatkin et al., 1999), familial partial lipodystrophy (Shackleton et al., 2000), limb girdle
In people with Dunnigan-type familial partial lipodystrophy, fat melts from arms, legs, and buttocks while depositing in the head, neck, and abdomen.

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