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Lipodystrophy, Familial Partial
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Definition of 'Lipodystrophy, Familial Partial'

Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2).

Common names: Lipodystrophy, Familial Partial; Familial Partial Lipodystrophies; Lipodystrophies, Familial Partial; Partial Lipodystrophies, Familial; Partial Lipodystrophy, Familial; Koberling-Dunnigan Syndrome; Koberling Dunnigan Syndrome; Familial Partial Lipodystrophy; Familial Partial Lipodystrophy, Type 2

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Sunday, November 22, 2009

Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.

30 Jul 2009 BACKGROUND: Familial partial lipodystrophy, Dunnigan variety, is a rare autosomal dominant disorder caused by missense mutations in LMNA gene. Individuals are predisposed to insulin resistance and its complications, including features of polycystic ... Read more...


Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD).

25 Jun 2009 Proteins of the A-type lamin family, which consists of two members, lamin A and lamin C, are the major components of a thin proteinaceous filamentous meshwork, the lamina, that underlies the inner nuclear membrane. A-type lamins have recently become ... Read more...


Predicting abdominal adipose tissue among women with familial partial lipodystrophy.

30 May 2009 The objective of the study was to determine correlations between magnetic resonance imaging (MRI) measures of truncal adiposity (trunk fat percentage [TrF %(MRI)], visceral adipose tissue [VAT], and subcutaneous abdominal adipose tissue [SAT]), ... Read more...

 

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Technical information about 'Lipodystrophy, Familial Partial'

Definition: Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2).

Descriptor UI: D052496

Alternative terms: Lipodystrophy, Familial Partial; Familial Partial Lipodystrophies; Lipodystrophies, Familial Partial; Partial Lipodystrophies, Familial; Partial Lipodystrophy, Familial; Koberling-Dunnigan Syndrome; Koberling Dunnigan Syndrome; Familial Partial Lipodystrophy; Familial Partial Lipodystrophy, Type 2; Lipodystrophy, Familial Partial, Dunnigan Type; Dunnigan Syndrome; Syndrome, Dunnigan; Lipodystrophy, Familial Partial, Type 2; Familial Partial Lipodystrophy, Type 3; Lipodystrophy, Familial Partial, Type 3; Familial Partial Lipodystrophy, Type 1; Familial Partial Lipodystrophy, Kobberling Type; Lipodystrophy, Familial Partial, Type 1;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C17.800.849.391.700; C18.452.584.625.700; C18.452.880.391.700;

History Note: 2007; use DIABETES MELLITUS, LIPOATROPHIC 2005-2006

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