Dunnigan familial partial lipodystrophy

Dunnigan familial partial lipodystrophy
Dunnigan familial partial lipodystrophy
Classification and external resources
OMIM 151660

Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central obesity, hyperinsulinemia, glucose intolerance and diabetes[1] usually type 2,[2] dyslipidemia, hypertension,[1] and early endpoints of atherosclerosis.[2] It can also result in hepatic steatosis.[3] FPLD results from mutations in LMNA gene, which is the gene that encodes nuclear lamins A and C.[1]

See also

  • Familial partial lipodystrophy

References

  1. ^ a b c Hegele RA (December 2000). "Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome". Mol. Genet. Metab. 71 (4): 539–44. doi:10.1006/mgme.2000.3092. PMID 11136544. http://linkinghub.elsevier.com/retrieve/pii/S1096-7192(00)93092-0. 
  2. ^ a b Hegele RA (September 2000). "Insulin resistance in human partial lipodystrophy". Curr Atheroscler Rep 2 (5): 397–404. doi:10.1007/s11883-000-0078-0. PMID 11122771. 
  3. ^ Lüdtke A, Genschel J, Brabant G, et al. (October 2005). "Hepatic steatosis in Dunnigan-type familial partial lipodystrophy". Am. J. Gastroenterol. 100 (10): 2218–24. doi:10.1111/j.1572-0241.2005.00234.x. PMID 16181372. 
v · d · eCytoskeletal defects
Microfilaments
Other
Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)
IF
1/2
3
4
5
Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1) · LMNB (Barraquer–Simons syndrome) · LEMD3 (Buschke–Ollendorff syndrome, Osteopoikilosis) · LBR (Pelger-Huet anomaly, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia)
Microtubules
Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3
Other
Tauopathy · Cavernous venous malformation
Membrane
Catenin
Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk



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