Dunnigan familial partial lipodystrophy

Medical condition

Familial Partial Lipodystrophy, Dunnigan Type

Autosomal dominant is the manner of inheritance of this condition

Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), 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] The condition is named after Scottish doctor Matthew Dunnigan, who pioneered early study into the disorder. ^[4]

References

^ ^a ^b ^c 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.
^ ^a ^b 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. S2CID 38167209.
^ 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. S2CID 23356132.
^ Köbberling, J; Dunnigan, M (1986). "Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state". Journal of Medical Genetics. 23 (2): 120–127. doi:10.1136/jmg.23.2.120. PMC 1049565. PMID 3712389.

External links

Classification	D ICD-10: E88.1 OMIM: 151660

Cytoskeletal defects

Microfilaments

Myofilament

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

Microtubules

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