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Generalized lipodystrophy

Generalized lipodystrophy is characterized by reduction of adipose tissue throughout the body.

Symptoms

Acanthosis nigricans
Generalized lipodystrophy is accompanied by acanthosis nigricans.

Systematic

Lipodystrophy
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Generalized lipodystrophy
Congenital generalized lipodystrophy type 2
BSCL2
Generalized lipodystrophy type 1
AGPAT2
Partial lipodystrophy

References:

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 (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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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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19.

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 (2004) Acquired and inherited lipodystrophies.

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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 (1959) Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?

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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
38.

Orphanet article

Orphanet ID 435628 external link
39.

Wikipedia article

Wikipedia EN (Congenital_generalized_lipodystrophy) external link
Update: Aug. 14, 2020
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