ataxia telangiectasia

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 malignant disease. A raised level of alpha-fetoprotein is found in the blood, and a key feature is the presence of prominent blood vessels visible on the sclerae of the eyes.

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

  • 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 — See ataxia telangiectasia. * * * 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… …   Medical dictionary

  • 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 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| 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

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