Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lipodystrophy

Lipodystrophy is characterized by a progressive reduction of adipose tissues. A partial and a generalized form may be distinguished. Though often acquired, as a result of diabetes and AIDS for instance, genetic forms are known as well.

Symptoms

Acanthosis nigricans
Generalized and partial lipodystrophy may be accompanied by acanthosis nigricans.

Systematic

Disturbances of body fat distribution
Inherited leanness
Lipodystrophy
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2
Generalized lipodystrophy
Congenital generalized lipodystrophy type 2
BSCL2
Generalized lipodystrophy type 1
AGPAT2
Partial lipodystrophy
Familial partial lipodystrophy type 2
LMNA
Familial partial lipodystrophy type 3
PPARG
Familial partial lipodystrophy type 4
PLIN1
Familial partial lipodystrophy type 5
CIDEC
Obesity

References:

1.

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

[^]
2.

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

[^]
3.

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.

[^]
4.

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.

[^]
5.

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

[^]
6.

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

[^]
7.

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.

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]
26.

None (2004) Acquired and inherited lipodystrophies.

[^]
27.

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

[^]
28.

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

[^]
29.

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.

[^]
30.

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

[^]
31.

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

[^]
32.

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.

[^]
33.

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

[^]
34.

Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.

[^]
35.

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

[^]
36.

Ebihara K et al. (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.

[^]
37.

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

[^]
38.

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

[^]
39.

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

[^]
40.

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

[^]
41.

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

[^]
42.

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

[^]
43.

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

[^]
44.

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

[^]
45.

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

[^]
46.

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

[^]
47.

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

[^]
48.

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

[^]
49.

None (1961) Lipodystrophic muscular hypertrophy.

[^]
50.

SEIP M et al. (1963) GENERALIZED LIPODYSTROPHY.

[^]
51.

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

[^]
52.

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

[^]
53.

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

[^]
54.

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.

[^]
55.

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

[^]
56.

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

[^]
57.

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

[^]
58.

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

[^]
59.

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

[^]
60.

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.

[^]
61.

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

[^]
62.

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

[^]
63.

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

[^]
64.

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

[^]
65.

Hamwi GJ et al. (1966) Lipoatrophic diabetes.

[^]
66.

None (1980) Congenital lipodystrophy. A case report.

[^]
67.

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

[^]
68.

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

[^]
69.

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

[^]
70.

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

[^]
71.

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

[^]
72.

OMIM.ORG article

Omim 608594 [^]
73.

Orphanet article

Orphanet ID 3452 [^]
74.

Wikipedia article

Wikipedia EN (Lipodystrophy) [^]
Update: May 10, 2019