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14-September-2008 10:43:22 - Barraquer-Simons syndrome Barraquer-Simons syndrome Classification and external resources ICD-10 272.6 OMIM 608709 DiseasesDB 9697 Barraquer-Simons syndrome or acquired partial lipodystrophy is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax.12 It is named for Luis Barraquer Roviralta and Arthur Simons.345 There is some evidence tying it to LMNB2.6 See also Laminopathy References ^ Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A 2004. Two new cases of Barraquer-Simons syndrome. Am. J. Med. Genet. A 126 4: 427-429. doi:10.1002/ajmg.a.20623. PMID 15098243. ^ Brănişteanu DD, Zbranca E 2000. Barraquer-Simons syndrome. Report of a case and review of the literature. Revista medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti din Iaş̧i 104 2: 155-158. PMID 12089983. ^ synd/1565 at Who Named It ^ L. Barraquer Roviralta. Histoire clinique d'un cas d'atrophie du tissue cellulo-adipeux. Barcelona, 1906. ^ A. Simons. Eine seltene Trophoneurose Lipodystrophia progressiva. Zeitschrift für die gesamte Neurologie und Psychiatrie, Berlin, 1911, 5: 29-38. ^ Hegele RA, Cao H, Liu DM, et al 2006. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am. J. Hum. Genet. 79 2: 383-389. doi:10.1086/505885. PMID 16826530. v d e Lipid metabolism disorders / Inborn error of lipid metabolism - dyslipidemia E78 and E71.3, 272 Hyperlipidemia Hypercholesterolemia/Hypertriglyceridemia Familial hypercholesterolemia, Combined hyperlipidemia - Xanthoma Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency, Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia, Apolipoprotein B deficiency Lipodystrophy Barraquer-Simons syndrome Fatty acid metabolism deficiency transport: Carnitine Primary, I, II, -acylcarnitine - Adrenoleukodystrophy beta oxidation: Acyl CoA dehydrogenase Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain - Mitochondrial trifunctional protein deficiency to acetyl-CoA: Malonic aciduria Cholesterol synthesis Smith-Lemli-Opitz syndrome Other Sjögren-Larsson syndrome - Lipomatosis - Adiposis dolorosa - Lipoid proteinosis see also lipid metabolism enzymes, lipoprotein metabolism This disease article is a stub. Retrieved from http://en..org/wiki/Barraquer-Simons_syndrome Categories: Metabolic disorders | Rare diseases | Genetic disorders | Syndromes | Disease stubs Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Polski This page was last modified on 13 May 2008, at 08:19
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