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Lipodystrophie

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.

Symptome

Acanthosis nigricans
Die Lipodystrophie, sowohl die generalisierte wie auch die partielle Form, kann von einer Acanthosis nigricans begleitet sein.

Gliederung

Störung der Körperfettverteilung
Fettleibigkeit
Lipodystrophie
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2
Generalisierte Lipodystrophie
Generalisierte Lipodystrophie Typ 1
AGPAT2
Kongenitale progressive Lipodystrophie Typ 2
BSCL2
Partielle Lipodystrophie
Familiäre partielle Lipodystrophie Typ 2
LMNA
Familiäre partielle Lipodystrophie Typ 3
PPARG
Familiäre partielle Lipodystrophie Typ 4
PLIN1
Familiäre partielle Lipodystrophie Typ 5
CIDEC
Vererbte Magersucht

Referenzen:

1.

Rajab A et al. (2002) Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

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2.

Agarwal AK et al. (2003) Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

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3.

None (1959) Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?

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4.

REED WB et al. (1965) CONGENITAL LIPODYSTROPHIC DIABETES WITH ACANTHOSIS NIGRICANS: THE SEIP-LAWRENCE SYNDROME.

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5.

SEIP M et al. (1963) GENERALIZED LIPODYSTROPHY.

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6.

None (1961) Lipodystrophic muscular hypertrophy.

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7.

Rajab A et al. (2003) Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?

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8.

Herbst KL et al. (2003) Köbberling type of familial partial lipodystrophy: an underrecognized syndrome.

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9.

Van Maldergem L et al. (2002) Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

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10.

Simha V et al. (2003) Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.

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11.

Barroso I et al. () Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.

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12.

Garg A et al. (1999) A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

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13.

Shimomura I et al. (1999) Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy.

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14.

Afifi AK et al. (1976) The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations.

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15.

Savage DB et al. (2003) Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.

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16.

Hegele RA et al. (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.

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17.

Agarwal AK et al. (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.

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18.

Friguls B et al. () Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

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19.

Huseman CA et al. (1979) Congenital lipodystrophy. II. Association with polycystic ovarian disease.

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20.

Uzun O et al. (1997) Congenital total lipodystrophy and peripheral pulmonary artery stenosis.

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21.

Seip M et al. (1996) Generalized lipodystrophy, congenital and acquired (lipoatrophy).

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22.

Johansen K et al. (1995) An unusual type of familial lipodystrophy.

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23.

None (1993) Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome.

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24.

Oseid S et al. (1977) Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy.

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25.

None (1980) Congenital lipodystrophy. A case report.

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26.

Hamwi GJ et al. (1966) Lipoatrophic diabetes.

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27.

Brunzell JD et al. (1968) Congenital generalized lipodystrophy accompanied by cystic angiomatosis.

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28.

Shackleton S et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

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29.

Huseman C et al. (1978) Congenital lipodystrophy: An endocrine study in three siblings. I. Disorders of carbohydrate metabolism.

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30.

Shastry S et al. (2010) Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.

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31.

Rajab A et al. (2010) Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.

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32.

Hayashi YK et al. (2009) Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

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33.

Liu L et al. (2008) Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance.

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34.

Simha V et al. (2008) Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.

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35.

Kim CA et al. (2008) Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

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36.

Ebihara K et al. (2007) Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy.

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37.

Köbberling J et al. (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes.

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38.

Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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39.

Greene ML et al. (1970) Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia.

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40.

Dunnigan MG et al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

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41.

Köbberling J et al. (1986) Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.

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42.

Burn J et al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).

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43.

None (1988) Banting lecture 1988. Role of insulin resistance in human disease.

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44.

Reardon W et al. (1990) Partial lipodystrophy syndromes--a further male case.

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45.

Davidson MB et al. (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.

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46.

Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

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47.

Lanktree M et al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

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48.

Vigouroux C et al. (2003) LMNA mutations in atypical Werner's syndrome.

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49.

Caux F et al. (2003) A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

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50.

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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51.

Schmidt HH et al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.

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52.

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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53.

Speckman RA et al. (2000) Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

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54.

Cao H et al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

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55.

Peters JM et al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.

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56.

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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57.

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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58.

Agarwal AK et al. (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

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59.

Shimomura I et al. (1998) Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy.

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60.

Gandotra S et al. (2011) Perilipin deficiency and autosomal dominant partial lipodystrophy.

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61.

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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62.

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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63.

Vantyghem MC et al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.

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64.

Spuler S et al. (2007) Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.

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65.

None (2004) Acquired and inherited lipodystrophies.

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66.

None (2001) Premature atherosclerosis associated with monogenic insulin resistance.

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67.

None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

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68.

Anderson JL et al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.

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69.

Garg A et al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).

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70.

Jackson SN et al. (1998) A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

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71.

Robbins DC et al. (1982) Familial partial lipodystrophy: complications of obesity in the non-obese?

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72.

OMIM.ORG article

Omim 608594 external link
73.

Orphanet article

Orphanet ID 3452 external link
74.

Wikipedia Artikel

Wikipedia DE (Lipodystrophie) external link
Update: 14. August 2020
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