Heterogeneous disorder

Hypogonadotropic hypogonadism is a genetically heterogeneous disorder characterized by infertility and... 

Casteels-Van Daele M, Van Geet C, Wouters C, Eggermont E. Reye syndrome revisited a descriptive term covering a group of heterogeneous disorders. Eur JPediatr. 2000 159 641-648. 

Schellenberg GD. 1995a. Genetic dissection of Alzheimer s disease, a heterogeneous disorder. Proc Natl Acad Sci U S A 92 8552-8559. 

The presence and extent of the ischaemic penumbra is time-dependent. However, stroke is a heterogeneous disorder, and survival of the penumbra can vary from less than 3 h to well beyond 48 h from patient to patient (Darby et al. 1999 Read et al. 2000). Penumbral survival is dependent upon many factors, such as location of vessel occlusion, state of collateral blood... 

X-ALD is a clinically heterogeneous disorder that can result in progressive nervous system manifestations, adrenal insufficiency, and in-... 

Fleckenstein AE, Volz TJ, Riddle EL, Gibb JW, Hanson GR (2007) New insights into the mechanism of action of amphetamines. Annu Rev Pharmacol Toxicol 47 681-698 Folstein SE, Rosen-Sheidley B (2001) Genetics of autism complex aetiology for a heterogeneous disorder. Nat Rev Genet 2 943-955... 

Frontotemporal dementia (LTD) is one of the common forms of primary degenerative dementias after Alzheimer s disease and can affect presenile individuals. It is a clinically heterogeneous disorder characterized by alterations in language and/or behavior. Rarely it may be associated with Parkinsonism or amyotrophy. Depending on the initial and core clinical feature FID is further classified into primary progressive aphasia (PPA) when language impairment is the initial and core... 

Both asthma in general, allergic asthma and other atopic phenotypes are genetically heterogeneous disorders. 

Recently, Campbell et al. (2009) have reported that disrupted MET gene signaling may contribute to increased risk for autism spectrum disorder that includes familial GI dysfunction. A functional variant in the promoter of the gene encoding the MET receptor tyrosine kinase has been associated with ASD, and MET protein expression has been found to be decreased in the temporal lobe cortex in ASD postmortem brain tissue. MET is a pleiotropic receptor that is known to function in both brain development and GI repair. Thus, the identification of medical disorders in ASD individuals, in this case GI disorders, may not only improve quality of life for those affected with ASD but may lead to improved or more precise definition of genetic and phenotypic subtypes in this complex heterogeneous disorder. 

Eolstein, SE and Rosen-Sheidley, B (2001) Genetics of autism complex aetiology for a heterogeneous disorder. Nat Rev Genet 2 943-955. 

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