C0004135 - A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.

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Lang Dictionary CODE			LUI	preferred no	SUI	preference Yes / No	Terms, descriptions
							CUI C0004135

Russian	Medical Subject Headings Russian	D001260	L3339697	preferred	S3867175	Y	АТАКСИЯ-ТЕЛЕАНГИЭКТАЗИЯ
Russian	Medical Subject Headings Russian	D001260	L0890567	no	S1094384	Y	ATAKSIIA-TELEANGIEKTAZIIA
Russian	Medical Subject Headings Russian	D001260	L1528862	no	S1824771	Y	LUI-BAR SINDROM
Russian	MDRRUS	10003594	L16092665	no	S19402436	N	Атаксия телеангиэктазия
Russian	MDRRUS	10003594	L16092665	no	S19402436	Y	Атаксия телеангиэктазия
Russian	Medical Subject Headings Russian	D001260	L3355949	no	S3883433	Y	ЛУИ-БАР СИНДРОМ
	Medical Subject Headings				A0027430	AT53895411	An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
	(CPTSP) CRISP Thesaurus				A0474119	AT51221982	inherited disease characterized by onset in early childhood of progressive cerebellar ataxia, oculocutaneous telangiectasis, and severe sinopulmonary infections.
	MEDLINEPLUS				A21144085	AT220106425	Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include Ataxia - trouble coordinating movements Poor balance Slurred speech Tiny, red spider veins, called telangiectasias, on the skin and eyes Lung infections Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke
	NCI Thesaurus				A7585484	AT197967100	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.
	NCI NCI Dictionary of Cancer Terms				A7585484	AT198090644	A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.