Die Lipodystrophie (Fettgewebsschwund) ist eine durch eine progressive Abnahme des Fettgewebes charakterisiert. Es werden zwei formen unterschieden, die partielle oder umschriebene und die generalisierte Form. Neben erworbenen Erkrankungen bei Diabetes und AIDS gibt es erbliche Formen.
Acanthosis nigricans | |
Die Lipodystrophie, sowohl die generalisierte wie auch die partielle Form, kann von einer Acanthosis nigricans begleitet sein. |
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None (1993) Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome. |
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Brunzell JD et al. (1968) Congenital generalized lipodystrophy accompanied by cystic angiomatosis. |
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Shastry S et al. (2010) Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. |
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Hayashi YK et al. (2009) Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. |
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Liu L et al. (2008) Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. |
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Kim CA et al. (2008) Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. |
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Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males. |
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Greene ML et al. (1970) Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia. |
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Dunnigan MG et al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome. |
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Burn J et al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). |
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None (1988) Banting lecture 1988. Role of insulin resistance in human disease. |
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Davidson MB et al. (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. |
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Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. |
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Lanktree M et al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). |
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Vigouroux C et al. (2003) LMNA mutations in atypical Werner's syndrome. |
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Vigouroux C et al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. |
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Schmidt HH et al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. |
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Garg A et al. (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. |
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Peters JM et al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. |
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Ebihara K et al. (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. |
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Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. |
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Agarwal AK et al. (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. |
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None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. |
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Araújo-Vilar D et al. (2009) Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. |
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Vantyghem MC et al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. |
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None (2004) Acquired and inherited lipodystrophies. |
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None (2001) Premature atherosclerosis associated with monogenic insulin resistance. |
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None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). |
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Anderson JL et al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. |
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Garg A et al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). |
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OMIM.ORG article Omim 608594 |
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Orphanet article Orphanet ID 3452 |
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Wikipedia Artikel Wikipedia DE (Lipodystrophie) |