ataxia-telangiectasia

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.

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  • 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

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  • 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

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  • Ataxia telangiectasia and Rad3 related — Identifiers Symbols ATR; FRP1; MEC1; SCKL; SCKL1 External IDs …   Wikipedia

  • Ataxia telangiectasia mutated — (ATM) is a serine/threonine specific protein kinase (EC number|2.7.11.1) that is recruited and activated by DNA double strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell… …   Wikipedia

  • ataxia-telangiectasia syndrome — ataxia telangiectasia; see under ataxia …   Medical dictionary

  • 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

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