ataxia-telangiectasia
See ataxia telangiectasia.

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an autosomal recessive disorder caused by mutations in the ATM gene (locus: 11q22.3), which is involved in a number of biological functions, including DNA repair and cell cycle control. It is characterized by cerebellar ataxia and nystagmus, oculocutaneous telangiectasia, variable degrees of humoral and cellular immunodeficiency, recurrent bacterial infections of the respiratory tract from sinuses to lungs, and an increased incidence of lymphoreticular malignancies. There is an increased sensitivity to ionizing radiation. Gonadal hypoplasia, insulin resistance and hyperglycemia, liver function abnormalities, and elevated levels of alpha-fetoprotein and carcinoembryonic antigen are also seen in some patients. Called also Louis-Bar syndrome.

Medical dictionary. 2011.

Look at other dictionaries:

  • Ataxia telangiectasia — Saltar a navegación, búsqueda Ataxia telangiectasia Clasificación y recursos externos Aviso médico CIE 10 …   Wikipedia Español

  • ataxia telangiectasia — f. neurol. Enfermedad hereditaria autosómica de carácter recesivo que produce ataxia cerebelosa, telangiectasias cutáneas y trastornos oculares e inmunológicos. Medical Dictionary. 2011 …   Diccionario médico

  • ataxia-telangiectasia — Enfermedad genética infrecuente que afecta al metabolismo de las inmunoglobulinas y que se transmite con carácter autosómico recesivo. Suele comenzar en la infancia y progresa lentamente, produciéndose una degeneración cerebelosa progresiva, con… …   Diccionario médico

  • Ataxia telangiectasia — Infobox Disease Name = Ataxia Telangiectasia Caption = DiseasesDB = 1025 ICD10 = ICD10|G|11|3|g|10 ICD9 = ICD9|334.8 ICDO = OMIM = 208900 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 691 eMedicine mult = eMedicine2|oph|319 MeshID = D001260 …   Wikipedia

  • Ataxia telangiectasia — La ataxia telangiectasia es una enfermedad progresiva, multisistémica de transmisión autosómico recesiva, caracterizada por: ● Degeneración del cerebelo (y del sistema nervioso en general) ● Inmunodeficiencia ● Radiosensibilidad ● Predisposisción …   Enciclopedia Universal

  • ataxia telangiectasia — Louis Bar syndrome; a hereditary autosomal recessive disease in humans characterized by a high frequency of spontaneous chromosomal aberrations, neurological deterioration and susceptibility to various cancers. Ataxia: imbalance of muscle… …   Dictionary of molecular biology

  • ataxia telangiectasia — an inherited (autosomal recessive) neurological disorder. ataxia is usually noted early in life. Mental retardation, growth retardation, abnormal eye movements, skin lesions, and immune deficiency may be found. Affected individuals may develop… …   Medical dictionary

  • ataxia telangiectasia — an inherited (autosomal recessive) neurological disorder. Ataxia is usually noted early in life. Mental retardation, growth retardation, abnormal eye movements, skin lesions, and immune deficiency may be found. Affected individuals may develop… …   The new mediacal dictionary

  • ataxia-telangiectasia — noun Date: 1961 an inherited systemic disorder marked especially by progressive pathological changes in the nervous system resulting in loss of motor coordination and by increased susceptibility to cancer especially of lymphoid tissue …   New Collegiate Dictionary

  • ataxia-telangiectasia — A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer …   English dictionary of cancer terms

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