" /> Ataxia Telangiectasia Syndrome - CISMeF





Preferred Label : Ataxia Telangiectasia Syndrome;

NCIt synonyms : Ataxia Telangiectasia; Louis-Bar Syndrome; Ataxia-Telangiectasia Syndrome;

NCIt related terms : Ataxia-telangiectasia;

NCIt definition : Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.;

Alternative definition : NCI-GLOSS: A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.;

Codes from synonyms : CDR0000270853;

Détails


Vous pouvez consulter :


Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.