为您找到"
fpld
"相关结果约100,000,000个
Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. Specifically, fat is lost in the arms, legs, and hips, and gained around the face and liver. Symptoms usually develop around puberty and include problems breaking down food and resistance to the hormone that helps ...
FPLD is a group of genetic disorders affecting predominantly adipogenesis, lipid droplet structure and function leading to altered adipose tissue topography. The altered storing capacity and endocrine function of affected adipocytes result into insulin resistance and ectopic fat accumulation with severe metabolic complications. Raised awareness ...
The cause of familial partial lipodystrophy (FPLD) Familial partial lipodystrophy can be caused by mutations in several genes — most commonly, mutations in the LMNA gene. LMNA and the other genes associated with FPLD provide instructions for making proteins with a variety of functions, including important roles in fat storage and adipocytes ...
Familial partial lipodystrophy (FPLD) is a heterogeneous group of rare inherited disorders characterized by varying degrees of fat loss and metabolic abnormalities. The severity of metabolic derangements correlates with the extent of fat loss, thus highlighting the critical role of adipose tissue in glucose and lipid metabolism. ...
< Previous section; Next section > Causes. FPL is caused by mutations of specific genes. So far, mutations in five genes that cause FPL have been identified including the LMNA gene, which causes FPL2, Dunnigan variety; the PPARG gene, which causes FPL3; the PLIN1 gene, which causes FPL4; the AKT2 gene, which cases FPL5; and the CIDEC gene, which causes autosomal recessive FPL.
Familial partial lipodystrophy, also known as Köbberling-Dunnigan syndrome, [2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. [3]: 495 FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso.
Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region.FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central obesity, hyperinsulinemia, glucose intolerance and ...
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs.
Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the familial partial lipodystrophy (FPLD) syndromes, which include a set of disorders, usually autosomal dominant, due to different pathogenetic mechanisms leading to improper fat distribution (loss of fat in the limbs and gluteal region and variable regional fat ...
Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by the selective loss of adipose tissue. Its estimated prevalence is as low as 1 in 1 million. The deficiency of metabolically active adipose tissue is closely linked ...