共济失调毛细血管扩张症
基因病名称(英)
Ataxia telangiectasia
别名(英)
AT1,Ataxia-telangiectasia,Louis-Bar syndrome
别名
AT1，共济失调-毛细血管扩张症，Louis-Bar 综合征
统计
reviewed:1; annotated:0
交叉引用
208900,C0004135,C1859616,C1876175,D001260
描述(英)
A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.
描述
一种罕见的隐性疾病，其特征是进行性小脑共济失调、结膜和眼球血管扩张、免疫缺陷、生长迟缓和性不成熟。患者有很强的癌症倾向；大约 30% 的患者会出现肿瘤，尤其是淋巴瘤和白血病。来自受影响个体的细胞对电离辐射造成的损伤高度敏感，并且对辐射后 DNA 合成的抑制具有抗性。