DISEASES Nervous System Diseases [C10] Nervous System Diseases Central Nervous System Diseases [C10.228] Central Nervous System Diseases Brain Diseases [C10.228.140] Brain Diseases Cerebellar Diseases [C10.228.140.252] Cerebellar Diseases Cerebellar Ataxia [C10.228.140.252.190] Cerebellar Ataxia Spinocerebellar Ataxias [C10.228.140.252.190.530] Spinocerebellar Ataxias Ataxia Telangiectasia [C10.228.140.252.190.530.060] Ataxia Telangiectasia Machado-Joseph Disease [C10.228.140.252.190.530.530] Machado-Joseph Disease DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurocutaneous Syndromes [C10.562] Neurocutaneous Syndromes Ataxia Telangiectasia [C10.562.100] Ataxia Telangiectasia Neurofibromatoses [C10.562.600] Neurofibromatoses Nevus, Sebaceous of Jadassohn [C10.562.700] Nevus, Sebaceous of Jadassohn Sturge-Weber Syndrome [C10.562.800] Sturge-Weber Syndrome Tuberous Sclerosis [C10.562.850] Tuberous Sclerosis von Hippel-Lindau Disease [C10.562.925] von Hippel-Lindau Disease DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurologic Manifestations [C10.597] Neurologic Manifestations Dyskinesias [C10.597.350] Dyskinesias Ataxia [C10.597.350.090] Ataxia Cerebellar Ataxia [C10.597.350.090.500] Cerebellar Ataxia Spinocerebellar Ataxias [C10.597.350.090.500.530] Spinocerebellar Ataxias Ataxia Telangiectasia [C10.597.350.090.500.530.060] Ataxia Telangiectasia Machado-Joseph Disease [C10.597.350.090.500.530.530] Machado-Joseph Disease DISEASES Cardiovascular Diseases [C14] Cardiovascular Diseases Vascular Diseases [C14.907] Vascular Diseases Telangiectasis [C14.907.823] Telangiectasis Ataxia Telangiectasia [C14.907.823.213] Ataxia Telangiectasia CREST Syndrome [C14.907.823.225] CREST Syndrome Retinal Telangiectasis [C14.907.823.502] Retinal Telangiectasis Telangiectasia, Hereditary Hemorrhagic [C14.907.823.780] Telangiectasia, Hereditary Hemorrhagic DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Adrenal Hyperplasia, Congenital [C16.320.033] Adrenal Hyperplasia, Congenital Alagille Syndrome [C16.320.051] Alagille Syndrome alpha 1-Antitrypsin Deficiency [C16.320.060] alpha 1-Antitrypsin Deficiency Anemia, Hemolytic, Congenital [C16.320.070] Anemia, Hemolytic, Congenital Anemia, Hypoplastic, Congenital [C16.320.077] Anemia, Hypoplastic, Congenital Ataxia Telangiectasia [C16.320.080] Ataxia Telangiectasia Autoimmune Lymphoproliferative Syndrome [C16.320.089] Autoimmune Lymphoproliferative Syndrome Blood Coagulation Disorders, Inherited [C16.320.099] Blood Coagulation Disorders, Inherited Brugada Syndrome [C16.320.100] Brugada Syndrome CADASIL [C16.320.129] CADASIL Camurati-Engelmann Syndrome [C16.320.144] Camurati-Engelmann Syndrome Cardiomyopathy, Hypertrophic, Familial [C16.320.160] Cardiomyopathy, Hypertrophic, Familial CHARGE Syndrome [C16.320.165] CHARGE Syndrome Cherubism [C16.320.170] Cherubism Chromosome Disorders [C16.320.180] Chromosome Disorders Ciliopathies [C16.320.184] Ciliopathies Costello Syndrome [C16.320.188] Costello Syndrome Cystic Fibrosis [C16.320.190] Cystic Fibrosis Donohue Syndrome [C16.320.215] Donohue Syndrome Dwarfism [C16.320.240] Dwarfism Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Familial Multiple Lipomatosis [C16.320.298] Familial Multiple Lipomatosis Frasier Syndrome [C16.320.306] Frasier Syndrome GATA2 Deficiency [C16.320.314] GATA2 Deficiency Genetic Diseases, X-Linked [C16.320.322] Genetic Diseases, X-Linked Genetic Diseases, Y-Linked [C16.320.338] Genetic Diseases, Y-Linked Hajdu-Cheney Syndrome [C16.320.355] Hajdu-Cheney Syndrome Hemoglobinopathies [C16.320.365] Hemoglobinopathies Hereditary Autoinflammatory Diseases [C16.320.382] Hereditary Autoinflammatory Diseases Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Hyper-IgM Immunodeficiency Syndrome [C16.320.413] Hyper-IgM Immunodeficiency Syndrome Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427] Hyperthyroxinemia, Familial Dysalbuminemic Kallmann Syndrome [C16.320.467] Kallmann Syndrome Kartagener Syndrome [C16.320.480] Kartagener Syndrome Laminopathies [C16.320.488] Laminopathies Lennox Gastaut Syndrome [C16.320.495] Lennox Gastaut Syndrome Loeys-Dietz Syndrome [C16.320.510] Loeys-Dietz Syndrome Marfan Syndrome [C16.320.540] Marfan Syndrome Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Muscular Dystrophies [C16.320.577] Muscular Dystrophies Myasthenic Syndromes, Congenital [C16.320.590] Myasthenic Syndromes, Congenital Nail-Patella Syndrome [C16.320.600] Nail-Patella Syndrome Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Oculocerebrorenal Syndrome [C16.320.709] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.320.714] Orofaciodigital Syndromes Osteoarthropathy, Primary Hypertrophic [C16.320.718] Osteoarthropathy, Primary Hypertrophic Osteochondrodysplasias [C16.320.728] Osteochondrodysplasias Osteogenesis Imperfecta [C16.320.737] Osteogenesis Imperfecta Pain Insensitivity, Congenital [C16.320.775] Pain Insensitivity, Congenital Pelger-Huet Anomaly [C16.320.784] Pelger-Huet Anomaly Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Pycnodysostosis [C16.320.812] Pycnodysostosis Renal Tubular Transport, Inborn Errors [C16.320.831] Renal Tubular Transport, Inborn Errors Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Werner Syndrome [C16.320.925] Werner Syndrome Yellow Nail Syndrome [C16.320.962] Yellow Nail Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Ataxia Telangiectasia [C16.320.798.250] Ataxia Telangiectasia Bloom Syndrome [C16.320.798.313] Bloom Syndrome Chediak-Higashi Syndrome [C16.320.798.375] Chediak-Higashi Syndrome Hereditary Complement Deficiency Diseases [C16.320.798.500] Hereditary Complement Deficiency Diseases Hyper-IgM Immunodeficiency Syndrome [C16.320.798.625] Hyper-IgM Immunodeficiency Syndrome Job Syndrome [C16.320.798.688] Job Syndrome Leukocyte-Adhesion Deficiency Syndrome [C16.320.798.719] Leukocyte-Adhesion Deficiency Syndrome Severe Combined Immunodeficiency [C16.320.798.750] Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome [C16.320.798.875] Wiskott-Aldrich Syndrome DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases DNA Repair-Deficiency Disorders [C18.452.284] DNA Repair-Deficiency Disorders Ataxia Telangiectasia [C18.452.284.060] Ataxia Telangiectasia Bloom Syndrome [C18.452.284.100] Bloom Syndrome Cockayne Syndrome [C18.452.284.250] Cockayne Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C18.452.284.255] Colorectal Neoplasms, Hereditary Nonpolyposis Fanconi Anemia [C18.452.284.280] Fanconi Anemia Li-Fraumeni Syndrome [C18.452.284.520] Li-Fraumeni Syndrome Nijmegen Breakage Syndrome [C18.452.284.600] Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome [C18.452.284.760] Rothmund-Thomson Syndrome Severe Combined Immunodeficiency [C18.452.284.800] Severe Combined Immunodeficiency Werner Syndrome [C18.452.284.960] Werner Syndrome Xeroderma Pigmentosum [C18.452.284.975] Xeroderma Pigmentosum DISEASES Immune System Diseases [C20] Immune System Diseases Immunologic Deficiency Syndromes [C20.673] Immunologic Deficiency Syndromes Primary Immunodeficiency Diseases [C20.673.795] Primary Immunodeficiency Diseases Ataxia Telangiectasia [C20.673.795.250] Ataxia Telangiectasia Bloom Syndrome [C20.673.795.313] Bloom Syndrome Chediak-Higashi Syndrome [C20.673.795.375] Chediak-Higashi Syndrome Hereditary Complement Deficiency Diseases [C20.673.795.500] Hereditary Complement Deficiency Diseases Hyper-IgM Immunodeficiency Syndrome [C20.673.795.625] Hyper-IgM Immunodeficiency Syndrome Job Syndrome [C20.673.795.688] Job Syndrome Leukocyte-Adhesion Deficiency Syndrome [C20.673.795.719] Leukocyte-Adhesion Deficiency Syndrome Severe Combined Immunodeficiency [C20.673.795.750] Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome [C20.673.795.875] Wiskott-Aldrich Syndrome

Ataxia Telangiectasia - Preferred

Concept UI	M0001898
Scope note	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).
Preferred term	Ataxia Telangiectasia
Entry term(s)	Ataxia Telangiectasia Syndrome Ataxia-Telangiectasia Louis Bar Syndrome Louis-Bar Syndrome Syndrome, Ataxia Telangiectasia Syndrome, Louis-Bar Telangiectasia, Cerebello-Oculocutaneous