KEGG   DISEASE: Familial partial lipodystrophy (FPL)Help
H00420                      Disease                                

Familial partial lipodystrophy (FPL), including the following four diseases:
Kobberling-type lipodystrophy (FPLD1);
Dunnigan-type lipodystrophy (FPLD2);
Dunnigan-like lipodystrophy (FPLD3);
AKT2 associated lipodystrophy
Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association with FPL. However, it is not yet known how these genes cause the disorder. Besides them, additional loci are likely as many FPL patients do not reveal any mutations in these genes. LMNA mutations may affect nuclear function, and may be involved in apoptosis and premature cell death of adipocytes, thus causing lipodystrophy. PPARG, PLIN1, and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive causes of partial lipodystrophy were reported.
Metabolic disease; Skin and connective tissue disease
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H00420  Familial partial lipodystrophy
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E88  Other metabolic disorders
    H00420  Familial partial lipodystrophy (FPL)
BRITE hierarchy
PPAR signaling pathway
Insulin signaling pathway
Apelin signaling pathway
Regulation of lipolysis in adipocytes
LMNA [HSA:4000] [KO:K12641]
PPARG [HSA:5468] [KO:K08530]
AKT2 [HSA:208] [KO:K04456]
LMNB2 [HSA:84823] [KO:K07611]
PLIN1 [HSA:5346] [KO:K08768]
CIDEC [HSA:63924]
LIPE [HSA:3991] [KO:K07188]
Other DBs
Simha V, Garg A
Inherited lipodystrophies and hypertriglyceridemia.
Curr Opin Lipidol 20:300-8 (2009)
Garg A, Agarwal AK
Lipodystrophies: disorders of adipose tissue biology.
Biochim Biophys Acta 1791:507-13 (2009)
Bhayana S, Hegele RA
The molecular basis of genetic lipodystrophies.
Clin Biochem 35:171-7 (2002)
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
Am J Hum Genet 79:383-9 (2006)
PMID:21345103 (gene)
Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delepine M, Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J, O'Rahilly S, Magre J, Savage DB, Vigouroux C
Perilipin deficiency and autosomal dominant partial lipodystrophy.
N Engl J Med 364:740-8 (2011)
PMID:20049731 (gene)
Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magre J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, Argente J, O'Rahilly S, Savage DB
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
EMBO Mol Med 1:280-7 (2009)
PMID:24848981 (gene)
Albert JS, Yerges-Armstrong LM, Horenstein RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM
Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.
N Engl J Med 370:2307-2315 (2014)

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