Disease-gene associations mined from literature

Human genes for ataxia telangiectasia

Ataxia telangiectasia [DOID:12704]

Ataxia telangiectasia (A-T) (Boder-Sedgwick syndrome or Louis–Bar syndrome:555) is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. The disease is characterized by hypersensitivity to x-rays and predisposition to lymphomas.

Synonyms:  ataxia telangiectasia,  DOID:12704,  Boder-Sedgwick syndrome,  Louis Bar syndrome,  BoderSedgwick syndrome ...

Linkouts:  OMIM #1 #2