Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lipodystrophies represent a group of diseases characterized by altered body fat repartition and major metabolic alterations with insulin resistance. Genetic forms of partial lipodystrophy are currently recognized as two syndromes with subcutaneous lipoatrophy but preserved or increased fat at the level of face and neck (Dunnigan syndrome or FPLD due to LMNA mutations) and/or abdomen (PPARgamma-linked forms) and are both transmitted as dominant diseases. FPLD is further characterized by muscular hypertrophy, hyperandrogenism, acanthosis nigricans, hepatomegaly with steatosis and at the biological level, marked hypertriglyceridaemia, low HDL cholesterol, insulin resistance and altered glucose tolerance or diabetes. These signs occur after puberty and their prevalence and severity are more marked in female than in male patients. At the genetic level, LMNA mutations concern in most cases the type-A lamin C-terminal domain and more than 80% are heterozygous substitutions located at position 482 (R482W/Q/L). The other locations are G465D, K486N, R582H and R584H. The presence of signs evocative of limb-girdle muscular dystrophy has been reported in patients with typical forms of FPLD. In addition, forms presenting with lipodystrophy and myopathy have been reported for patients with mutations at position R28W, R60G, R62G or R527P. In addition, lipodystrophy, either partial or generalized, can be associated with syndromes of premature ageing like Hutchinson-Gilford progeria or acromandibular dysplasia, but also with other phenotypes, as we described in a patient bearing the LMNA R133L heterozygous substitution.
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PMID:A-type lamin-linked lipodystrophies. 1577 53

Generalized congenital lipodystrophy or Berardinelli-Seip Syndrome is a rare autosomal recessive condition characterized by the absence of adipose tissue and eventually a defect in leptin synthesis. Affected subjects tend to show a classical phenotype with acromegaloid appearance, generalized atrophy of subcutaneous adipose tissue with muscular hypertrophy, acanthosis nigricans, hepatomegaly and prominent abdomen. From metabolic point of view and as a consequence of leptin absence, hypertriglyceridemia leading to hepatic steatosis and insulin resistance may appear. Two cases of unrelated subjects affected of generalized congenital lipodystrophy are presented. Both developed difficult-to-manage diabetes mellitus and were treated with high doses of insulin. In both cases early microvascular complications were present. A mutation for LMNA gene was found in one of the subjects.
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PMID:[Difficult to manage diabetes mellitus associated with generalized congenital lipodystrophy. Report of two cases]. 2142 30