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]

References

1 2 3 Hegele, RA (December 2000). "Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome". Molecular Genetics and Metabolism. 71 (4): 539–44. doi:10.1006/mgme.2000.3092. PMID 11136544.
1 2 Hegele, RA (September 2000). "Insulin resistance in human partial lipodystrophy". Current Atherosclerosis Reports. 2 (5): 397–404. doi:10.1007/s11883-000-0078-0. PMID 11122771.
↑ Ludtke, A; Genschel, J; Brabant, G; Bauditz, J; et al. (October 2005). "Hepatic steatosis in Dunnigan-type familial partial lipodystrophy". The American Journal of Gastroenterology. 100 (10): 2218–24. doi:10.1111/j.1572-0241.2005.00234.x. PMID 16181372.

Actin	Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3

Myosin	Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May-Hegglin anomaly

Troponin	Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5

Tropomyosin	Hypertrophic cardiomyopathy 3 Nemaline myopathy 1

Titin	Hypertrophic cardiomyopathy 9

Other

1/2	Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E (Ichthyosis bullosa of Siemens) KRT3 (Meesmann juvenile epithelial corneal dystrophy) KRT4 (White sponge nevus) KRT5 (Epidermolysis bullosa simplex) KRT8 (Familial cirrhosis) KRT10 (Epidermolytic hyperkeratosis) KRT12 (Meesmann juvenile epithelial corneal dystrophy) KRT13 (White sponge nevus) KRT14 (Epidermolysis bullosa simplex) KRT17 (Steatocystoma multiplex) KRT18 (Familial cirrhosis) KRT81/KRT83/KRT86 (Monilethrix) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures

3	Desmin: Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP: Alexander disease Peripherin: Amyotrophic lateral sclerosis

4	Neurofilament: Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis

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

Kinesin	Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10

Dynein	Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3

Other	Tauopathy Cavernous venous malformation

Other

See also: cytoskeletal proteins

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