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Generalisierte Lipodystrophie Typ 1

Die generalisierte Lipodystrophie 1 ist eine autosomal rezessive Erkrankung, die durch Mutationen des AKT2-Gens hervorgerufen wird. Sie ist durch eine Abnahme von Fettgewebe am ganzen Körper charakterisiert, die schon bei der geburt oder infrüher Kindheit sichtbar wird. Gleichzeitig besteht eine Insulinresistenz. Weitere wichtige klinische merkmale sind Acanthosis nigricans, muskuläre Hypertrophie, Hepatomegalie, gestörte Glukosetoleranz und Diabetes mellitus sowie Hypertriglyceridämie.

Gliederung

Generalisierte Lipodystrophie
Generalisierte Lipodystrophie Typ 1
AGPAT2
Kongenitale progressive Lipodystrophie Typ 2

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

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

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14.

Hamwi GJ et al. (1966) Lipoatrophic diabetes.

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15.

None (1980) Congenital lipodystrophy. A case report.

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16.

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

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17.

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

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18.

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

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

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20.

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

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21.

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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22.

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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23.

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

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24.

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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25.

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

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26.

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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27.

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

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28.

None (2004) Acquired and inherited lipodystrophies.

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

None (1961) Lipodystrophic muscular hypertrophy.

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35.

SEIP M et al. (1963) GENERALIZED LIPODYSTROPHY.

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36.

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

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37.

OMIM.ORG article

Omim 608594 external link
Update: 14. August 2020
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