Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Partielle Lipodystrophie

Die partielle Lipodystrophie ist durch eine umschriebene Abnahme von Fettgewebe, meist im Gesicht beginnend, charakterisiert.

Gliederung

Lipodystrophie
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
Generalisierte Lipodystrophie
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

Referenzen:

1.

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

None (2004) Acquired and inherited lipodystrophies.

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin.

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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.

external link
23.

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.

external link
24.

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

external link
25.

Vigouroux C et al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.

external link
26.

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.

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

Orphanet article

Orphanet ID 3163 external link
39.

OMIM.ORG article

Omim 608600 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz