Related MeSH Hierarchy (8)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Cerebellar Diseases » Cerebellar Ataxia » Spinocerebellar Ataxias » Ataxia Telangiectasia
Diseases [C] » Nervous System Diseases [C10] » Neurocutaneous Syndromes » Ataxia Telangiectasia
Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Dyskinesias » Ataxia » Cerebellar Ataxia » Spinocerebellar Ataxias » Ataxia Telangiectasia
Diseases [C] » Cardiovascular Diseases [C14] » Vascular Diseases » Telangiectasis » Ataxia Telangiectasia
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Ataxia Telangiectasia
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Primary Immunodeficiency Diseases » Ataxia Telangiectasia
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » DNA Repair-Deficiency Disorders » Ataxia Telangiectasia
Diseases [C] » Immune System Diseases [C20] » Immunologic Deficiency Syndromes » Primary Immunodeficiency Diseases » Ataxia Telangiectasia
Description
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). MeSH
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Phase 4 Indicated Drugs (6)
Phase 3 Indicated Drugs (2)
Phase 2 Indicated Drugs (5)
Phase 1 Indicated Drugs (1)
Other Experimental Indicated Drugs (14)
Organization Involved with Phase 4 Indications (3)
Organization Involved with Phase 3 Indications (3)
Organization Involved with Phase 2 Indications (6)
Organization Involved with Phase 1 Indications (1)
Organization Involved with Other Experimental Indications (3)
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