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Nervous System Diseases > Neurocutaneous Syndromes > Ataxia Telangiectasia
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Neurocutaneous Syndromes > Ataxia Telangiectasia
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > Ataxia Telangiectasia
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > Ataxia Telangiectasia
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > Ataxia Telangiectasia
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > Ataxia Telangiectasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Primary Immunodeficiency Diseases > Ataxia Telangiectasia
Immune System Diseases > Immunologic Deficiency Syndromes > Primary Immunodeficiency Diseases > Ataxia Telangiectasia
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Cerebellar Diseases > Cerebellar Ataxia > Spinocerebellar Ataxias > Ataxia Telangiectasia
... > Nervous System Diseases > Neurologic Manifestations > Dyskinesias > Ataxia > Cerebellar Ataxia > Spinocerebellar Ataxias > Ataxia Telangiectasia
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Dyskinesias > Ataxia > Cerebellar Ataxia > Spinocerebellar Ataxias > Ataxia Telangiectasia
... > Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Dyskinesias > Ataxia > Cerebellar Ataxia > Spinocerebellar Ataxias > Ataxia Telangiectasia
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Cerebellar Diseases > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Ataxia Telangiectasia
... > Nervous System Diseases > Central Nervous System Diseases > Spinal Cord Diseases > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Ataxia Telangiectasia
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Ataxia Telangiectasia
... > Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Ataxia Telangiectasia
Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Ataxia Telangiectasia
Cardiovascular Diseases > Vascular Diseases > Telangiectasis > Ataxia Telangiectasia

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Ataxia Telangiectasia  

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Tipo

  • mesh:Descriptor

Definición

  • 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).

Concepto genérico

Etiquetas alternativas

  • Ataxia Telangiectasia Syndrome
  • Ataxia-Telangiectasia
  • Louis-Bar Syndrome
  • Telangiectasia, Cerebello-Oculocutaneous

En otras lenguas

  • Ataxie-télangiectasie

    francés

  • AT (Ataxie-Télangiectasie)
  • Ataxie télangiectasique
  • Ataxie-télangiectasies
  • Syndrome d'ataxie-télangiectasie
  • Syndrome de Louis-Bar

URI

http://data.loterre.fr/ark:/67375/JVR-DP8WB99S-5

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